EDITORIAL
Published on 01 Dec 2022
Editorial: The genetics of human Mendelian skin disorders
doi 10.3389/fgene.2022.1061724
- 1,863 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
8,335
Total downloads
43k
Total views and downloads
Articles
MINI REVIEW
Published on 06 Sep 2022
Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology
doi 10.3389/fped.2022.900606
- 5,800 views
- 16 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
- 1,479 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
- 1,738 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
- 1,918 views
- 4 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
- 2,378 views
- 6 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
- 1,942 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
- 2,876 views
- 4 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
- 5,305 views
- 9 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
- 11,183 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
- 1,861 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