Original Research
Accepted on 20 Mar 2025
Incidental finding of a DMD exons 48-55 deletion during prenatal diagnosis
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1541468
Type at least 3 characters
403 articles
Articles
Case Report
Accepted on 17 Mar 2025
A novel missense variant in ZC4H2, c.196C>T p.(Leu66Phe), is associated with a mild, ZC4H2-related X-linked syndromic intellectual disability (ZARD) phenotype
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1518782
Case Report
Published on 14 Mar 2025
Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1476541
- 211 views
Case Report
Published on 07 Mar 2025
A novel missense variant of FBN1 gene in a Sardinian family with Marfan syndrome: a case report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1549504
- 344 views
Case Report
Published on 03 Mar 2025
Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1532561
- 401 views
Original Research
Published on 27 Feb 2025
Eliglustat substrate reduction therapy in children with Gaucher disease type 1
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1543136
- 791 views
Case Report
Published on 13 Feb 2025
TUBGCP2 variants cause lissencephaly spectrum disorders: a case report and literature review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1476390
- 595 views
Case Report
Published on 10 Feb 2025
Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1494530
- 679 views
Case Report
Published on 22 Jan 2025
Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2024.1488095
- 553 views
Case Report
Published on 21 Jan 2025
SMARCA4-related Coffin-Siris syndrome in newborn: a case report and literature review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2024.1493380
- 949 views
Original Research
Published on 17 Jan 2025
Genetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2024.1487121
- 548 views
Case Report
Published on 15 Jan 2025
Case Report: Diagnosis and treatment of incontinentia pigmenti with central nervous system anomalies in one patient
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2024.1490816
- 719 views
Case Report
Published on 14 Jan 2025
Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2024.1503455
- 522 views
Original Research
Published on 13 Jan 2025
Biochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2024.1293356
- 675 views
Original Research
Published on 07 Jan 2025
Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2024.1504122
- 423 views
Case Report
Published on 06 Jan 2025
Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2024.1518344
- 1,114 views