Original Research
Published on 01 Mar 2023
The diagnostic yield of CGH and WES in neurodevelopmental disorders
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1133789
- 4,493 views
- 8 citations
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385 articles
Articles
Case Report
Published on 24 Feb 2023
Case report: Expansion of phenotypic and genotypic data in TENM3-related syndrome: Report of two cases
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1111771
- 4,641 views
- 2 citations
Case Report
Published on 15 Feb 2023
Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1070303
- 2,668 views
- 2 citations
Case Report
Published on 15 Feb 2023
Case Report: Novel rare mutation c.6353C > G in the ABCA12 gene causing harlequin ichthyosis identified by whole exome sequencing
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1128716
- 3,924 views
Case Report
Published on 06 Feb 2023
Anti-AQP4–IgG-positive Leigh syndrome: A case report and review of the literature
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1046731
- 2,050 views
Case Report
Published on 03 Feb 2023
Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1068718
- 1,865 views
- 4 citations
Original Research
Published on 03 Feb 2023
Clinical features and enzyme replacement therapy in 10 children with Fabry disease
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1084336
- 2,624 views
- 4 citations
Case Report
Published on 02 Feb 2023
Case Report: Transient antenatal bartter syndrome in an extremely preterm infant with a novel MAGED2 variant
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1093268
- 1,701 views
- 3 citations
Original Research
Published on 26 Jan 2023
The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1092645
- 3,866 views
- 1 citation
Case Report
Published on 18 Jan 2023
Case report: A de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1089194
- 1,513 views
Case Report
Published on 16 Jan 2023
Case report: Fatal infantile hypertonic myofibrillar myopathy with compound heterozygous mutations in the CRYAB gene
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.993165
- 2,117 views
Original Research
Published on 11 Jan 2023
Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1056141
- 1,986 views
- 3 citations
Case Report
Published on 11 Jan 2023
Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: A case report and review of the literature
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.990008
- 2,136 views
- 4 citations
Original Research
Published on 10 Jan 2023
Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1062900
- 2,432 views
- 3 citations
Case Report
Published on 06 Jan 2023
Autosomal dominant chronic mucocutaneous candidiasis with STAT1 mutation can be associated with chronic active hepatitis: A case report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.990729
- 2,519 views
- 1 citation
Case Report
Published on 04 Jan 2023
Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1038440
- 1,359 views
- 1 citation