Comprehensive Cytogenetic and ISSR Analysis in the Context of Conservation of the Local Breed of Brown Carpathian Cattle BreedAbstract The article reveals the variability of the genome of cattle of the local small-numbered domestic Brown Carpathian breed using cytogenetic and molecular genetic polylocus markers, and justifies the need to integrate local breeds into the modern system of agricultural production in accordance with FAO [...] 29 122 |
Challenges and Ethical Issues Related to Non-Invasive Prenatal Testing (NIPT)by
Thomas Liehr
Abstract Non-invasive prenatal testing (NIPT) is now standard in prenatal care in many countries, even though it was introduced only about 15 years ago. Due to its rapid adoption into decades-old prenatal care plans, gynecologists, obstetricians, and the general public still struggle to understand the possib [...] 188 632 |
Assessment of Genetic Diversity and Polymorphism in Corylus avellana L. Pollen by Inter-Primer Binding Site Marker AnalysisAbstract Genetically conditioned variation in pollen has been demonstrated to have a substantial influence on reproductive mechanisms and population dynamics. The present study evaluated the genetic variability of 28 pollen samples of Corylus avellana L. using iPBS (Inter Primer Binding [...] 104 368 |
Evaluation of Ten Bread Wheat (Triticum aestivum) Cultivars and Five of Their Hybrids under Salinity Stress at Germination and Seedling Stageby
Doaa Mokhtar
,
Amina Abdel-Hamid
,
Ahmed Mohamed Mostafa
,
Ahmed M.S. Elfanah
,
Mohamed A Badawi
,
Abdullah A. Saber
,
Hoda S. Barakat
and
Sara Aly
Abstract Salinity poses a danger to food security; hence, it is necessary to create crop types that can withstand salt to meet the growing demand for food. The goal of the current study was to examine the morphological and biochemical responses of wheat (Triticum aestivum L.) genotypes u [...] 87 447 |
Insights from Stem Cell and CRISPR-Based Therapies for Diabetes Mellitus: A Systematic ReviewAbstract Diabetes mellitus (DM) is a metabolic disorder resulting from aberrations in insulin secretion or action. Diabetes mellitus still presents as a global health challenge. Conventional diabetes treatment may result in unwanted side effects and/or poor compliance. More personalized and curative approach [...] 246 1016 |
Determining the Role of KRAS in Patients with Different Demographic Profiles Diagnosed with Diabetes Mellitus: A Case-Control Studyby
Noora A. Hadi
,
Rehab S. Ramadhan
,
Khalid Suhail A. AlAzzawi
,
Rebah N. Algafari
,
Sura S. Talib
and
Rawaa A. Khalaf
Abstract Diabetes mellitus (DM) is widely spread among populations. About 3 of 10 people show the symptoms of this disease. Many factors may cause this illness in both types (type 1 and type 2 DM), mainly attributed to insufficient insulin production in type 1 DM or developing insulin resistance in type 2 DM [...] 127 437 |
Unraveling the Role of Non-Coding Genetic Variants in Male Infertility: Insights from the Chinese PopulationAbstract Male infertility is a growing concern worldwide, with almost half of infertility cases being male, and the trend is rising in China as a result of multifaceted genetics-environment interaction. Important breakthroughs have been made in identifying mutations in annotated protein-coding genes associat [...] 181 684 |
Analysis of Leukocyte Telomere Length in Brazilian People Living with HIV with and Without Cancerby
Rafaele Tavares Silvestre
,
Mariana Chantre-Justino
,
Mariana Alexandre Bragante
,
Paula Lacorte de Carvalho
,
Lucas Delmonico
,
Gilda Alves
,
Maria Helena Ornellas
and
Dirce Bonfim de Lima
Abstract Advances in antiretroviral therapy (ART) have normalized the life expectancy of people living with HIV (PLWH) but have been linked to a premature presentation of age-related comorbidities, including cancer. Telomere length (TL) is a marker of cellular aging and was investigated in blood [...] 435 998 |
Stem Cell-Derived Exosomes: Non-Coding RNA Cargos for Reprogramming the Tumor Immune Microenvironmentby
Manal Hadi Ghaffoori Kanaan
,
Beom-Jin Lee
,
Sura Saad Abdullah
,
Chulhun Park
,
Abdolmajid Ghasemian
and
Steward Mudenda
Abstract Stem cell-derived exosomes (SDEs) have emerged as revolutionary mediators in cancer immunotherapy, offering unprecedented potential to reprogram the immunosuppressive tumor immune microenvironment (TIME). These nano-sized extracellular vesicles, laden with non-coding RNAs (ncRNAs), serve as natural [...] 545 1686 |
Genetic Differentiation of Populations of Three Megalopolises by DNA Markers of the Y-Chromosome in Connection with the Problem of Developing Genetic DatabasesAbstract The purpose of the study was to consider the distribution of Y-chromosome DNA markers in samples from the populations of the three largest megalopolises (Moscow, Saint Petersburg, and Novosibirsk) in the Russian Federation, in the context of developing genetic databases. The study aimed to compare t [...] 579 1966 |
Genetic and Clinical Features of Tuberous Sclerosis Patients from the Republic of BashkortostanAbstract Tuberous sclerosis (TS) is one of the most common hereditary tumor syndromes, occurring with an average incidence of 1 in 9,000 newborns worldwide. The disease manifests itself through the development of tumors of the brain, kidneys, heart, lungs, and skin, along with characteristic depi [...] 449 1213 |
Acknowledgment to Reviewers of OBM Genetics in 2025Abstract The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2025. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer c [...] 371 921 |
The Application of Next-Generation Sequencing in LeukemiaAbstract Leukemia is a heterogeneous group of hematologic malignancies characterized by the dysfunctional proliferation of white blood cells in the bone marrow. Genetic alterations are important risk factors for the development and progression of leukemia, and their detection is crucial. Although many geneti [...] 472 1747 |
Diagnostic Challenges of Rothmund-Thomson Syndrome in Infancy: A Case Report from a Resource-Limited Settingby
Marcella Anggatama
,
Hanggoro Tri Rinonce
,
Dwinanda Almira Rizkiani
,
Eddy Supriyadi
,
Raden Roro Rini Andayani
,
Yohanes Widodo Wirohadidjojo
and
Retno Danarti
Abstract Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by early-onset poikiloderma and multisystem abnormalities. Diagnosis is often confirmed through genetic testing, but in many resource-limited settings, molec [...] 531 1504 |
Differential Expression of MiR-21 and MiR-19 in Biliary Atresia: Diagnostic Potential and Therapeutic Implicationsby
Mahintaj Dara
,
Negar Azarpira
,
Nasrin Motazedian
,
Mahdokht Hossein-Aghdaie
,
Seyed-Mohsen Dehghani
,
Bita Geramizadeh
and
Elaheh Esfandiari
Abstract Biliary atresia (BA), a severe pediatric liver disease of unknown etiology, causes neonatal jaundice, progressive cholestasis, and life-threatening liver fibrosis. Emerging evidence suggests microRNAs (miRNAs) – small non-coding RNAs that regulate gene expression by binding target mRNAs may play a r [...] 678 1991 |
Evaluation of Full Blood Count–Derived Inflammatory Indices (SII, SIRI, PIV, NLR) in Behçet’s Disease Patients and Healthy ControlsAbstract This study investigated three novel complete blood count–derived inflammatory biomarkers Systemic Immune-Inflammation Index (SII), Systemic Inflammation Response Index (SIRI), and Pan-Immune-Inflammation Value (PIV) and their relationship with clinical features of Behçet’s Disease (BD). Established [...] 524 2276 |
Episomal Vectors: Principle, Utility, and Applicationby
Masahiro Sato
,
Emi Inada
,
Satoshi Watanabe
,
Issei Saitoh
,
Naoko Kubota
,
Yoko Iwase
,
Kazunori Morohoshi
and
Shingo Nakamura
Abstract An episomal vector is a plasmid- or virus-based vector that is present extrachromosomally in cells after transfection. Although it disappears during cell proliferation, it can exist in non-dividing cells, such as neuronal and muscular cells, and continues to express a gene of interest (GOI). Such ep [...] 1233 6947 |
Physio-Chemical and Molecular Characterization of Salinity Stress in Wheat: Mitigation Approaches and Future Perspectivesby
Muhammad Zahid
,
Amir Shakeel
,
Dilawar Aslam
,
Qumber Abbas
,
Basharat Ali
,
Yasir Niaz
,
Javed Iqbal
,
Fatih Çiğ
,
Murat Erman
,
Hakkı Akdeniz
,
Mohammad Sohidul Islam
,
Muhammad Aamir Iqbal
,
Disna Ratnasekera
,
Ömer Konuşkan
and
Ayman El Sabagh
Abstract Wheat constitutes the backbone of global food supplies, and its production is directly linked to the food and nutritional security of the mounting population. Wheat is vulnerable to abiotic stresses like heat, salinity, and drought. These abiotic stresses tend to reduce the food security of the incr [...] 1025 4066 |
The Effect of Adding Mealworm, Probiotics, and Mealworm Plus Probiotics on IL-8 Gene Expression in Liver and Spleen Tissues of Broiler Chickensby
Mohammadreza Mohammadabadi
,
Amin Khezri
,
Olena Babenko
,
Oleksandr Oleksandrovich Borshch
,
Oleksandr Kalashnyk
,
Iryna Starostenko
,
Sergii Тkachenko
,
Nataliia Klopenko
,
Iryna Tytarenko
,
Ivan Bezpalyi
and
Aliakbar Khabiri
Abstract Interleukin-8 (IL-8), a pro-inflammatory cytokine, plays a critical role in immune modulation in poultry and has potential applications in veterinary and human medicine. This study investigated the effects of dietary supplementation with mealworm (Tenebrio molitor), probiotics, [...] 647 2700 |
Etiopathogenesis of Ebstein’s Anomaly RevisitedAbstract Ebstein's anomaly (EA) is a rare form of congenital heart disease (CHD), characterized by abnormal cardiac anatomy involving a defective tricuspid valve (TV), resulting in tricuspid regurgitation (TR) and cyanosis. EA is represented in different case scenarios with varying degrees of complexity acro [...] 5416 13786 |
Potential Synergistic Interaction Between Curcumin and Sorafenib Enhances Cytotoxicity in NCI-H5222 Lung Cancer CellsAbstract Non-small cell lung cancer (NSCLC), accounting for approximately 85% of lung cancer cases, remains a leading cause of cancer-related mortality. Genetic alteration such as EGFR mutations, tobacco exposure, and resistance to apoptosis, slows its progression and limits therapeutic success. Although tar [...] 706 3154 |
Network Topology Similarities Across Cancer Types: Identifying Central Protein Hubs for Drug Discoveryby
Emad Fadhal
Abstract A molecular-level understanding of cancer is essential for the development of effective therapies. Constructing protein-protein interaction (PPI) networks offers a valuable approach to identifying dysregulated driver genes and potential therapeutic targets. In this study, we modeled cancer PPI netwo [...] 666 2723 |
Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorderby
Dwinanda Almira Rizkiani
,
Erliana Tantri Harsono
,
Raden Roro Rini Andayani
,
Hanggoro Tri Rinonce
,
Niken Trisnowati
and
Retno Danarti
Abstract Netherton syndrome is a rare autosomal recessive disorder caused by mutations in the SPINK5 gene, leading to LEKTI protein dysfunction, impaired skin barrier function, and immune dysregulation. It manifests as a triad of ichthyosiform erythroderma, trichorrhexis invaginata (bamb [...] 630 3117 |
Association of Dopamine D2 Receptor (DRD2) C939T and a Lack of Association of Tumor Necrosis Factor-β (TNF-β) +A252G Polymorphisms with Susceptibility to Migraine in A Northern Iranian PopulationAbstract Genetic factors including TNF-β and DRD2 have been considered as essential components in the etiology of migraine. Several studies have investigated the association between TNF-β +A252G or DRD2 C939T polymorphisms and migraine risk, with debatable results. We aimed to examine whether TNF-β +A252G an [...] 1286 4051 |
The Homozygous c.612C>G Mutation in C1QBP is Associated with Late-Onset Progressive External Ophthalmoplegiaby
Ivanna Shymanska
,
Sofiia Levandivska
,
Marharyta Marchuk
,
Anastasiya Honchar
,
Volodymyr Kravets
and
Halyna Makukh
Abstract Biallelic pathogenic variants in C1QBP are an infrequent, yet increasingly recognised, cause of progressive external ophthalmoplegia (PEO). Although most published cases include cardiomyopathy, isolated late‑onset PEO without cardiac disease remains exceptional. To characterise, for the first time, [...] 650 3430 |
Plant-Derived Nanoparticles in Cancer Therapy: A Comprehensive Review of Recent Advances and Future ProspectsAbstract Cancer continues to be one of the leading causes of global death, and conventional therapies have limited efficacy because of their toxicity, drug resistance, and off-target effects. Plant-derived nanoparticles (PDNPs) have emerged as suitable alternatives as they have biocompatibility, biodegradabi [...] 1448 7464 |
Trends in Breast Cancer Epigenetics Research from 1993 to 2023: A Bibliometric AnalysisAbstract Breast cancer is a significant health problem. Epigenetic alterations that influence gene expression were implicated in breast cancer pathogenesis. Bibliometric analysis can be done to evaluate the existing literature and identify gaps and emerging trends. This bibliometric analysis aims to provide [...] 745 4685 |
Morpho-Biochemical Characterization and Genetic Analyses of the Traits of Mungbean Genotypes Confined with Yield Attributing Traits and Salinity Stress Toleranceby
Mumtarim Haque Mim
,
Biswajit Das
,
Sheikh Mahfuja Khatun
,
Sadia Akter
,
Jannatul Naim
,
Mohammad Anowar Hossain
,
Mohammad Pessarakli
and
Mohammad Anwar Hossain
Abstract Low phenotypic and genotypic variability for yield-attributing traits and susceptibility to salinity stress are constraints of mungbean productivity. The objectives of the study are to phenotype a set of exotic mungbean genotypes for yield-attributing traits and salinity tolerance, as well as to con [...] 1140 5558 |
Effects of Plastoquinone Derivative 10-(6'-Plastoquinonyl) Decyltriphenylphosphonium on Rice Seeds Grown under Complete Flooding Conditionsby
Nadezhda G. Duplii
,
Kirill V. Azarin
,
Alexander V. Usatov
,
Andrey A. Plotnikov
,
Ritu Rani
and
Vishnu D. Rajput
Abstract The present work aimed to study the effects of 10-(6'-plastoquinonyl) decyltriphenylphosphonium (SkQ1) on rice (Oryza sativa) plants germinating under flooding conditions. The influence of different concentrations of SkQ1 (mitochondria-targeted antioxidant) on resistance [...] 726 3516 |
Leveraging DNA Databases to Reconnect Families Separated by Conflicts and Humanitarian CrisesAbstract Ongoing global conflicts and humanitarian crises have led to unprecedented displacement, including millions of separated children, many of whom, especially infants, cannot be traced using traditional methods. This paper advocates for the establishment of a voluntary, privacy-protected global DNA dat [...] 957 4857 |
Impact of Normalization Methods on Metagenomic Characterization of Amaranthus Cruenthus var. Pribina-Associated Microbiomes Under Cadmium StressAbstract The study of endophytic and rhizosphere microbiota offers considerable potential for applications in agriculture, biotechnology, and bioremediation, given the phytoremediation capacity of Amaranthus cruentus var. Pribina performed a detailed analysis of the root and rhizosphere mi [...] 1033 3805 |
Evaluation of Polylocus Spectra of DNA Fragments of the Genus Eguus Using ISSR-PCR MarkersAbstract Characterization of the non-coding part of the transcriptome is a supplement to the annotation of the genome of living organisms. According to ISSR-fingerprinting data, information is obtained about ancient gene pools, modern gene pools, genetic variability and conservation of bre [...] 708 3421 |
Serum Shock Enhances Endogenous Melatonin Production and Mitochondrial Gene Regulation in U87-MG Glioblastoma Cellsby
Shayan Balkhi
,
Marie Saghaeian Jazi
,
Nader Mansour Samaei
,
Nahid Rezaie
and
Mahtab Farahmandrad
Abstract Glioblastoma (GBM) is the most aggressive primary brain tumor, with a poor prognosis despite advancements in understanding its biology. Melatonin, a key regulator of metabolism and cellular homeostasis, is known for its neuroprotective and anti-cancer properties. While traditionally linked to pineal [...] 971 4286 |
Gut Microbial Similarity Analysis in Mono and Dizygotic Twins Discordant for Down Syndromeby
Pierre-Yves Maillard
,
Sima Tokajian
,
Marie Vilaire-Meunier
,
Charbel Al Khoury
,
Cybel Mehawej
,
Eliane Chouery
,
Marie-Anne Caillaud
,
Louise Maillebouis
,
Ines Ben Smida
,
Sophie Durand
,
Aimé Ravel
,
Cecile Cieuta-Walti
,
Marie-Noëlle Ungeheuer
,
Clotilde Mircher
and
André Mégarbané
Abstract To investigate the potential impact of the additional chromosome 21 on the gut microbiome in patients with Down syndrome (DS), two monozygotic (MZ) and two dizygotic (DZ) twin pairs discordant for DS were studied. Whole-genome shotgun sequencing was conducted to analyze the taxonomic and functional [...] 685 4150 |
The Identification and Classification of Novel Genetic Variants in the MCPH1 Gene Suggest Association with Non-Syndromic Hearing ImpairmentAbstract Human mouse orthologous hearing impairment genes were investigated in African patients for causal variants. A homozygous mutation in exon 13 of the microcephalin1 (MCPH1) gene, which encodes the BRCA1-carboxyl terminal 2 domain (BRCT2), was reported in non-syndromic hearing impair [...] 746 3812 |
A New Database on Constitutional Human Ring Chromosomesby
Thomas Liehr
and
Peining Li
Abstract Human ring chromosomes (RCs) constitute one of the rarest described inborn chromosomal rearrangements. At first, they seem to be just another subgroup of structural chromosomal aberrations like translocations, inversions, or insertions. However, RCs are more complex, as they almost always occur in c [...] 663 4605 |
Papillon-Lefèvre Syndrome and Vitamin D Deficiency: An Intriguing Clinical ObservationAbstract We report the case of a 3-year-old girl from a consanguineous marriage, initially diagnosed with vitamin D deficiency–associated periodontitis following early tooth mobility. Despite supplementation, her condition worsened with the onset of palmoplantar hyperkeratosis. Further investigations reveale [...] 683 4476 |
In Silico Evaluation of Anti-SARS-CoV-2 Bioactive Compounds from Jatropha curcasby
Faten Dhawi
and
Shefin Basheera
Abstract Jatropha curcas L., a medicinal shrub renowned for its diverse phytochemicals, has been traditionally used to treat various ailments, including ulcers, neoplasms, and dermatological conditions. Despite its pharmacological promise, its potential against Severe Acute Respir [...] 1071 5787 |
Unraveling and Expanding the Genotypic Spectrum of Kabuki Syndrome with Identification of de Novo Protein-Truncating Mutations in the KMT2D Gene: Insights into the Role of Premature Stop Codons in the Etiology of the Disorderby
Mohammad-Reza Ghasemi
,
Maryam Mirahmadi
,
Hadi Bayat
,
Mohammad Miryounesi
,
Reza Mirfakhraie
,
Shadab Salehpour
,
Raheleh Tangestani
,
Faezeh Sherafat
,
Hasan Roudgari
and
Milad Gholami
Abstract Kabuki Syndrome (KS) is a rare, multisystem congenital disorder with five foremost clinical manifestations encompassing dysmorphic facial characteristics, postnatal growth constraint, craniofacial/skeletal anomalies, mild to moderate intellectual disability, and dermatoglyphic abnormalities. We anal [...] 1036 6014 |
The Roles of IL-6, IL-8, and TNF-α in Pediatric Immune Defense and Infection SeverityAbstract Cytokines are pivotal regulators of immune responses. They are critical in mediating inflammation, recruiting immune cells, and driving pathogen clearance. Among these, interleukin-6 (IL-6), interleukin-8 (IL-8), and tumor necrosis factor-alpha (TNF-α) stand out as key players in pediatric immunity, [...] 1222 9899 |
Agrobacterium-Mediated Genome Modification for Improvement of Oil Palm Planting Materialsby
Ayub Nor Hanin
,
Mat Yunus Abdul Masani
,
Ong-Abdullah Janna
,
Omar Abdul Rasid
and
Ghulam Kadir Ahmad Parveez
Abstract Oil palm is the most productive vegetable oil crop compared to other oil-bearing crops because it produces the highest oil yield per hectare. Palm oil is very versatile since it is used for producing food and beverages, personal care and cosmetics, cleaning products, biofuel, and bioenergy. To cater [...] 1967 15499 |
Exploring the Genetic Landscape of Knobloch Syndrome: Novel Variant Identification and Literature Reviewby
Mohammad-Reza Ghasemi
,
Maryam Mirahmadi
,
Hadi Bayat
,
Morteza Sheikhi Nooshabadi
,
Sanaz Jamshidi
,
Shadab Salehpour
,
Reza Mirfakhraie
,
Fatemeh Fazeli
,
Mohammad Miryounesi
and
Milad Gholami
Abstract Knobloch Syndrome (KS) is a rare genetic disorder characterized by ocular abnormalities and central nervous system (CNS) defects, which are attributed to collagenopathy. The primary gene implicated in KS is COL18A1, which encodes the alpha chain of type XVIII collagen. This type o [...] 958 5739 |
Oral Features in Children with X-Linked Hypophosphatemic Rickets: An 8-Year Follow-Up Case ReportAbstract X-linked hypophosphatemic rickets (XLHR) is a hereditary metabolic disease caused by the loss of phosphate through the renal tubules into the urine and an associated decrease in serum calcium and potassium phosphate, resulting in bone and dental abnormalities. We report this case, aiming to describe [...] 756 3871 |
Diagnosis of Infectious Diseases by CRISPR/Cas Systemby
Mahintaj Dara
,
Negin Shafieipour
,
Mahsa Saffar
,
Mehdi Dianatpour
,
Seyed-Mohammad-Bagher Tabei
and
Seyed-Alireza Dastgheib
Abstract Since the initial discovery of the CRISPR system in bacteria as an adaptive immune system, a deeper understanding of CRISPR structure and function has made it possible to perform gene editing, gene therapy, and revolutionize the diagnostic field. One of the exciting applications of the CRISPR-Cas sy [...] 1446 18906 |
Investigating Interest in Cancer Predisposition Testing and Expanded Carrier Screening in Routine Gynecologic Care among Pregnancy Capable IndividualsAbstract The goal of this qualitative study was to explore pregnancy capable individuals’ perceptions of having cancer predisposition testing (CPT) and/or expanded carrier screening (ECS) during routine gynecologic care and how these perceptions differ across individuals. A thematic analysis was conducted ba [...] 1082 4504 |
Potential CRISPR-Cas9-based Antiviral Activity Against Hepatitis C Virus in Liver CancerAbstract Hepatitis C virus (HCV) is a primary global health concern, and though therapeutic options have improved, no very effective vaccine is available despite decades of research. The health and vitality of the organism are related to the result of homeostatic regulation of the internal environment. In co [...] 1143 5433 |
Inheritance Studies of Root-Knot Nematode (Meloidogyne Species) Resistance in Tomato (Solanum Lycopersicum L.)by
Matilda Frimpong
,
Michael Kwabena Osei
,
Kingsley Osei
,
Ruth Naa Ashiokai Prempeh
,
Joseph Gyau
,
Isaac Newton Boakye-Mensah
,
Bismark Abugri
and
Maxwell Darko Asante
Abstract Plant-parasitic nematodes threaten tomato cultivation in Ghana, particularly the root-knot nematodes, causing substantial economic yield losses. However, these yield losses can be prevented through resistant varieties. This study aims to determine the type of gene action, heritability, heterosis and [...] 787 4990 |
When Should We Raise Clinical Suspicion of DiGeorge Syndrome: Two Case Reports from a Tertiary Hospital in Indonesiaby
Joni Indah Sari
,
Nydia Rena Benita Sihombing
,
Nani Maharani
,
Tri Indah Winarni
and
Agustini Utari
Abstract DiGeorge syndrome (DGS) or 22q11.2 deletion syndrome (22q11.2DS) is the most common genetic microdeletion in humans, with an incidence rate of 1:3000 to 6000 live births. Early detection and diagnosis of DiGeorge syndrome are challenging to clinicians due to its phenotype variability. We report two [...] 827 8290 |
Interstitial 1p36 Deletion Syndrome Encompassing CAMTA1 Gene: A Case ReportAbstract Deletion of chromosome 1p36 encompassed various genes; however, the role of the CAMTA1 gene in the 1p36 region is less investigated. We report a child with developmental delay, a history of congenital heart abnormality, self-injurious behavior, nystagmus, and facial dysmorphism. [...] 1318 7010 |
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