Article
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.
Archives of dermatological research - 1 Jun 2009
Nahum Sagi, Pasternack Sandra M, Pforr Jana, Indelman Margarita, Wollnik Bernd, Bergman Reuven, Nöthen Markus M, König Arne, Khamaysi Ziyad, Betz Regina C, Sprecher Eli
Abstract excerpt
Autosomal recessive hypotrichosis simplex (ARHS) manifests with paucity of hair appearing during early childhood. We assessed four affected families. We initially genotyped three of these families for a panel of microsatellite markers spanning all ARHS-associated loci and obtained data suggesting linkage to 3q27, encompassing LIPH, which had previously been shown to be associated with ARHS. Accordingly, a...
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