A Novel Homozygous Missense Mutation inHOXC13Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia
Author:
Affiliation:
1. Department of Dermatology; University of Texas Southwestern Medical Center; Dallas Texas
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.13074/fullpdf
Reference15 articles.
1. Ectodermal dysplasias: clinical and molecular review;Visinoni;Am J Med Genet A,2009
2. Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia;Lin;Am J Hum Genet,2012
3. Family with “pure” hair-nail ectodermal dysplasia;Barbareschi;Am J Med Genet,1997
4. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type;Naeem;J Med Genet,2006
5. Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia;Shimomura;J Invest Dermatol,2010
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1. Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits;International Journal of Molecular Sciences;2024-01-27
2. Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability;Human Mutation;2024-01
3. Naked (N) mutant mice carry a nonsense mutation in the homeobox of Hoxc13;Experimental Dermatology;2021-10-25
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5. Gene cloning and seamless site-directed mutagenesis using single-strand annealing (SSA);Applied Microbiology and Biotechnology;2018-09-12
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