Case Report
Accepted on 16 Jan 2026
Complex De Novo Tetrasomy and Trisomy of 2p22.2 Involving EIF2AK2 in a Child with Global Developmental Delay: A Case Report and Literature Review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
Type at least 3 characters
465 articles
articles
Review
Accepted on 16 Jan 2026
Progress, Clinical Application and Challenges of Non-invasive Prenatal Testing for Monogenic Diseases
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
Original Research
Accepted on 16 Jan 2026
A Female Case of X-Linked Intellectual Disability Syndrome Type 34 Caused by a NONO Frameshift Variant and Literature Review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
Case Report
Accepted on 12 Jan 2026
Case Report: Sengers Syndrome Caused by a Novel 7.6 kb AGK 1 Deletion Misdiagnosed as Isolated Congenital Cataract
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
Case Report
Published on 12 Jan 2026
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
doi 10.3389/fped.2025.1726800
- 441 views
Original Research
Accepted on 09 Jan 2026
Clinical Features and Management of 16q24.3 Microdeletion KBG Syndrome: Literature Review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
- 233 views
Case Report
Accepted on 05 Jan 2026
SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: Clinical and genetic features of three Chinese children
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
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
- 153 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
- 974 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
- 1,243 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
- 820 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
- 1,328 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
- 764 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
- 1,303 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
- 1,110 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
- 750 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
- 1,036 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
- 1,506 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
- 1,168 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
- 1,061 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
- 1,652 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
- 2,414 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
- 1,466 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
- 1,262 views