| Literature DB >> 24889544 |
Clare Kiely1, Deirdre Devaney, Judith Fischer, Patricia Lenane, Alan D Irvine.
Abstract
Ichthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. This mutation has arisen for the second time in an entirely distinct population from the Scandinavian population where it was first described.Entities:
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Year: 2014 PMID： 24889544 DOI： 10.1111/pde.12320
Source DB: PubMed Journal: Pediatr Dermatol ISSN： 0736-8046 Impact factor: 1.588