Ichthyosis prematurity syndrome: a case report and review of known mutations.
Item Type:Journal Article
Citation:Kiely C, Devaney D, Fischer J, Lenane P, Irvine AD, Ichthyosis prematurity syndrome: a case report and review of known mutations., Pediatric dermatology, 31, 4, 2014, 517-8
PMID 24889544 IPS prepublish.pdf (PDF) 296.0Kb
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.
Author: IRVINE, ALAN
Type of material:Journal Article
Series/Report no:Pediatric dermatology
Availability:Full text available
Keywords:Ichthyosis prematurity syndrome