Case Report
Accepted on 23 Sep 2025
Unveiling CHARGE Syndrome: A Neonatal Case Study with Esophageal Atresia and Feeding Difficulties
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1618512
Type at least 3 characters
443 articles
Case Report
Published on 22 Sep 2025
Case Report: Clinical case analysis of gaucher disease management in a resource-limited setting: a single center experience from Kashigar, Xinjiang Uygur Autonomous Region, the Western China
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1530177
- 941 views
Mini Review
Accepted on 18 Sep 2025
Mild features of partial PAX3 deletion in patients with Waardenburg Syndrome in prenatal: case report and literature review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1642132
- 376 views
Case Report
Published on 18 Sep 2025
A novel ANK1 frameshift mutation associated with neonatal hereditary spherocytosis: a case report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1666585
- 933 views
Case Report
Published on 16 Sep 2025
Case Report: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1615309
- 670 views
Brief Research Report
Accepted on 15 Sep 2025
Prevalence of Fragile X Syndrome in Georgian Patients with Autism Spectrum Disorder and/or Intellectual Disability: Cross-Sectional Study and Review of Current Approaches
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1645386
- 454 views
Case Report
Published on 12 Sep 2025
Case Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1608840
- 685 views
Original Research
Published on 05 Sep 2025
Clinical features and infection risks of Chinese children with different types of Gaucher disease
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1595394
- 947 views
Original Research
Published on 04 Sep 2025
Paternal mosaicism in ASXL3-related bainbridge-ropers syndrome: implications for genetic counseling and prenatal diagnosis
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1655021
- 753 views
Case Report
Published on 04 Sep 2025
Novel lamin B receptor mutation (c.561C > G) in a patient with Pelger-Huët anomaly: a case report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1587175
- 848 views
Case Report
Published on 03 Sep 2025
Case Report: A case of Poirier–Bienvenu neurodevelopmental syndrome manifesting primarily as eyelid myoclonia
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1583346
- 789 views
Original Research
Accepted on 29 Aug 2025
Oxidative Stress-Mediated Apoptosis via SLC23A2-Ascorbic Acid Interaction Contributes to Cleft Lip Development
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1632778
- 229 views
Case Report
Published on 26 Aug 2025
Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin–Siris syndrome 9 (CSS9) and literature review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1603863
- 891 views
Original Research
Published on 21 Aug 2025
Genetic testing enhances diagnosis in critically ill neonates: insights from the first Colombian cohort
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1605166
- 951 views
Case Report
Published on 21 Aug 2025
Case Report: Abnormal pupils caused by the mitochondrial MT-TL1 gene m.3243A>G mutation
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1573886
- 985 views
Original Research
Published on 20 Aug 2025
Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1651803
- 728 views