Case Report
Accepted on 24 Dec 2025
Case report: Dominant deafness-onychodystrophy syndrome and hypokalemic periodic paralysis in a single patient: a rare syndromic overlap
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
Type at least 3 characters
459 articles
articles
Case Report
Accepted on 19 Dec 2025
Case Report: Hyperprolinemia Type II in a Child with Autism Spectrum Disorder and ALDH4A1 Gene Variant in a Consanguineous Family
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
- 245 views
Review
Published on 01 Dec 2025
Rapid whole genome sequencing in newborn screening for metabolic diseases
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1686738
- 961 views
Case Report
Published on 01 Dec 2025
Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in YARS2-associated disease and a review of the literature
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1699348
- 768 views
Original Research
Published on 28 Nov 2025
Epidemiological characteristics and disease burden of childhood neuroblastoma in Asia: trends and regional differences over the past 30 years
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1701746
- 624 views
Systematic Review
Published on 26 Nov 2025
Influence of gestational history on neural tube defects and Eisenmenger syndrome: associations with intellectual disability and visual impairment in children and adults – a systematic review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1522839
- 1,188 views
Original Research
Published on 21 Nov 2025
Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1629840
- 618 views
Review
Published on 05 Nov 2025
From FGFR2 mutations to precision management: a review of prenatal diagnosis and multidisciplinary interventions in apert syndrome
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1658654
- 1,075 views
Case Report
Published on 28 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
- 956 views
Case Report
Published on 24 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
- 894 views
Original Research
Published on 24 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
- 683 views
Case Report
Published on 23 Oct 2025
Case Report: 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
- 1,318 views
Case Report
Published on 23 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
- 1,053 views
Original Research
Published on 21 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
- 968 views
- 1 citation
Case Report
Published on 20 Oct 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
- 1,532 views
Original Research
Published on 17 Oct 2025
Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1613599
- 2,156 views
Opinion
Published on 16 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
- 1,292 views
- 1 citation
Original Research
Published on 16 Oct 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
- 1,140 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
- 1,589 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
- 1,186 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
- 1,335 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
- 2,208 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
- 2,463 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
- 1,750 views