@article{0576e13532734ea9af51bb65c1ea62b3,
title = "A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families",
abstract = "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 homozygous duplication mutation in exon 2 of this gene (c.280-369dup; p.Gly94-Lys123dup) was found to segregate with the disease in all the families. Through the identification of the first duplication mutation in the human LIPH gene, we provide further evidence supporting a role for the phospholipase signalling pathway in hair growth and differentiation.",
keywords = "Hair, LIPH, Mutation",
author = "Sagi Nahum and Pasternack, {Sandra M.} and Jana Pforr and Margarita Indelman and Bernd Wollnik and Reuven Bergman and N{\"o}then, {Markus M.} and Arne K{\"o}nig and Ziyad Khamaysi and Betz, {Regina C.} and Eli Sprecher",
note = "Funding Information: Acknowledgments The authors thank the patients and their families for the participation in the study. Markus M. N{\"o}then is recipient of a grant of the Alfried Krupp von Bohlen und Halbach-Stiftung. Regina C. Betz is a recipient of an Emmy Noether grant from the German research foundation (DFG).",
year = "2009",
month = jun,
doi = "10.1007/s00403-008-0903-9",
language = "אנגלית",
volume = "301",
pages = "391--393",
journal = "Archives of Dermatological Research",
issn = "0340-3696",
publisher = "Springer Verlag",
number = "5",
}