A novelKRT86mutation in a Turkish family with monilethrix, and identification of maternal mosaicism
Author:
Affiliation:
1. Institute of Human Genetics; University of Bonn; Bonn Germany
2. Department of Genomics; Life and Brain Center; University of Bonn; Bonn Germany
3. Department of Dermatology; University of Bonn; Bonn Germany
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.12631/fullpdf
Reference10 articles.
1. A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix;Winter;Hum Genet,1997
2. Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype;Korge;J Invest Dermatol,1999
3. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix;Steensel;J Med Genet,2005
4. An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis;Zlotogorski;J Invest Dermatol,2006
5. Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions;Schaffer;J Invest Dermatol,2006
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