Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia
Author:
Affiliation:
1. Department of Biochemistry; Faculty of Biological Sciences; Quaid-i-Azam University; Islamabad Pakistan
2. Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands
Funder
Higher Education Commission, Pakistan
International Research Support Initiative Programme (IRSIP)
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.13115/fullpdf
Reference6 articles.
1. Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2;Naeem;Br J Dermatol,2006
2. Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia;Lin;Am J Hum Genet,2012
3. A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family;Farooq;Hum Mutat,2013
4. Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families;Ali;Br J Dermatol,2013
5. Disease causing homozygous variants in the human hairless gene;Mehmood;Int J Dermatol,2016
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