A novel deletion mutation in theDSG4gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families
Author:
Affiliation:
1. Department of Biochemistry; Faculty of Biological Sciences; Quaid-i-Azam University; Islamabad Pakistan
2. Army Medical College; National University of Science and Technology (NUST); Islamabad Pakistan
Funder
Pakistan Academy of Sciences (PAS)
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.12457/fullpdf
Reference24 articles.
1. Alopecia universalis associated with a mutation in the human hairless gene;Ahmad;Science,1998
2. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris;Kljuic;Cell,2003
3. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH;Kazantseva;Science,2006
4. Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair;Shimomura;Nat Genet,2008
5. G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth;Pasternack;Nat Genet,2008
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