A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association
Abstract
Autosomal recessive congenital ichthyosis (ARCI) is a group of keratinisation disorders that includes the ichthyosis prematurity syndrome (IPS). IPS is rare and almost exclusively present in a restricted region in the middle of Norway and Sweden, which indicates a founder effect for the disorder. We recently reported linkage of IPS to chromosome 9q34, and we present here the subsequent fine-mapping of this region with known and novel...
Paper Details
Title
A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association
Published Date
Sep 1, 2006
Journal
Volume
51
Issue
10
Pages
864 - 871
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