EDITORIAL
Published on 01 Dec 2022
Editorial: The genetics of human Mendelian skin disorders
doi 10.3389/fgene.2022.1061724
- 1,752 views
- Frontiers in Genetics
- Genetics of Common and Rare Diseases
- Research Topics
- The Genetics of Human Mendelian Skin Disorders
The Genetics of Human Mendelian Skin Disorders
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Articles
MINI REVIEW
Published on 06 Sep 2022
Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology
doi 10.3389/fped.2022.900606
- 5,425 views
- 11 citations
CASE REPORT
Published on 25 Aug 2022
Case Report: Diverse phenotypes of congenital poikiloderma associated with FAM111B mutations in codon 628: A case report and literature review
doi 10.3389/fgene.2022.926451
- 1,382 views
- 5 citations
ORIGINAL RESEARCH
Published on 06 Jul 2022
Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics
doi 10.3389/fgene.2022.916340
- 1,641 views
ORIGINAL RESEARCH
Published on 23 May 2022
A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update
doi 10.3389/fgene.2022.797124
- 1,765 views
- 3 citations
ORIGINAL RESEARCH
Published on 08 Apr 2022
Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
doi 10.3389/fgene.2022.848879
- 2,255 views
- 4 citations
CASE REPORT
Published on 06 Apr 2022
Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad
doi 10.3389/fped.2022.834268
- 1,816 views
- 1 citation
CASE REPORT
Published on 28 Mar 2022
Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis
doi 10.3389/fgene.2022.847321
- 2,656 views
- 3 citations
ORIGINAL RESEARCH
Published on 10 Feb 2022
Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia
doi 10.3389/fgene.2021.753229
- 5,018 views
- 8 citations
CASE REPORT
Published on 14 Dec 2021
Case Report: A Case of Hailey–Hailey Disease Mimicking Condyloma Acuminatum and a Novel Splice-Site Mutation of ATP2C1 Gene
doi 10.3389/fgene.2021.777630
- 11,044 views
- 5 citations
CASE REPORT
Published on 05 Nov 2021
Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex
doi 10.3389/fgene.2021.729628
- 1,796 views
- 3 citations
Published in
Frontiers in Genetics
- Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Pediatrics
- 2.1 impact factor
- 3.6 citescore
Impact
- 41kTopic views
- 31kArticle views
- 7,656Article downloads