Original Research
Published on 09 Dec 2022
A frameshift mutation of TMPRSS3 in a Chinese family with non-syndromic hearing loss
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1032659
- 1,414 views
- 1 citation
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385 articles
Articles
Case Report
Published on 07 Dec 2022
Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1041080
- 1,878 views
Original Research
Published on 02 Dec 2022
Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1003909
- 1,562 views
- 1 citation
Case Report
Published on 01 Dec 2022
Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1022980
- 1,884 views
- 1 citation
Correction
Published on 30 Nov 2022
Corrigendum: Single nucleotide polymorphisms interactions of the surfactant protein genes associated with respiratory distress syndrome susceptibility in preterm infants
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1069526
- 847 views
Case Report
Published on 29 Nov 2022
Hutchinson-Gilford progeria syndrome complicated with stroke: A report of 2 cases and literature review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1056225
- 3,250 views
- 2 citations
Case Report
Published on 28 Nov 2022
Cardiocerebral channelopathy caused by KCND3 mutation in a child: A case report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1019122
- 1,821 views
- 1 citation
Original Research
Published on 23 Nov 2022
Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1071464
- 2,941 views
- 19 citations
Correction
Published on 21 Nov 2022
Corrigendum: Dietary fiber and probiotics based on gut microbiota targeting for functional constipation in children with cerebral palsy
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1074856
- 1,253 views
- 4 citations
Case Report
Published on 18 Nov 2022
Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.975947
- 1,397 views
- 2 citations
Case Report
Published on 18 Nov 2022
Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.990230
- 1,613 views
Case Report
Published on 18 Nov 2022
Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1027832
- 2,108 views
Original Research
Published on 16 Nov 2022
S945L-CFTR molecular dynamics, functional characterization and tezacaftor/ivacaftor efficacy in vivo and in vitro in matched pediatric patient-derived cell models
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1062766
- 2,711 views
- 3 citations
Case Report
Published on 15 Nov 2022
Alagille syndrome due to a de novo NOTCH2 mutation presenting as prenatal oligohydramnios and congenital bilateral renal hypodysplasia: A case report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1020536
- 1,756 views
Original Research
Published on 14 Nov 2022
Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.999596
- 1,870 views
Editorial
Published on 12 Nov 2022
Editorial: NGS technologies of rare diseases diagnosis
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1032359
- 1,424 views
- 1 citation