| Literature DB >> 21564178 |
K Fong1, S Akdeniz, H Isi, M Taskesen, J A McGrath, J E Lai-Cheong.
Abstract
Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the SPINK5 gene. The clinical features include congenital ichthyosis, trichorrhexis invaginata and atopy. In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype-phenotype correlation in this condition. © The Author(s). CEDEntities:
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Year: 2010 PMID： 21564178 DOI： 10.1111/j.1365-2230.2010.03976.x
Source DB: PubMed Journal: Clin Exp Dermatol ISSN： 0307-6938 Impact factor: 3.470