Case Report
Accepted on 13 Oct 2025
KBG Syndrome Complicated with Chylothorax in A Newborn: A Case Report and Literature Review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1690056
Type at least 3 characters
451 articles
Case Report
Accepted on 10 Oct 2025
A novel frameshift STAG1 variant exhibiting haploinsufficiency due to the nonsense-mediated mRNA decay: a case report and literature review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1648430
- 110 views
Brief Research Report
Published on 10 Oct 2025
Mild features of partial PAX3 deletion in patients with prenatal Waardenburg syndrome: a case report and literature review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1642132
- 971 views
Case Report
Published on 10 Oct 2025
Case Report: Fetal cardiac rhabdomyoma caused by TSC1 mutation
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1681439
- 370 views
Case Report
Accepted on 09 Oct 2025
De novo Missense Mutation in MYT1L Leading to Autosomal Dominant Intellectual disability 39 and Autism Spectrum Disorder: A Case Report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1672911
- 134 views
Original Research
Accepted on 06 Oct 2025
A novel frameshift variant in the MED13 gene causing intellectual developmental disorder-61 in a Chinese family
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1699544
- 138 views
Original Research
Accepted on 06 Oct 2025
Novel SSR4 gene splice variant leads to Congenital disorder of glycosylation, type Iy
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1651524
Opinion
Accepted on 02 Oct 2025
Globalizing Newborn Screening: Bridging Gaps in Genetic Diagnosis and Treatment
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1672993
- 217 views
Original Research
Published on 02 Oct 2025
Oxidative stress-mediated apoptosis via the 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
- 763 views
Original Research
Accepted on 30 Sep 2025
Analysis of Deafness Gene Screening Results in 15771 Newborn Cases in Anyang City of Henan
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1645070
- 177 views
Case Report
Accepted on 29 Sep 2025
De Novo Frameshift Mutation in SYNGAP1 Resulting in Autosomal dominant mental retardation type 5 and Autism Spectrum Disorder: A Case Report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1671464
- 226 views
Brief Research Report
Published on 26 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
- 1,327 views
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
- 485 views
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
- 1,576 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
- 1,295 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
- 981 views