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Article

Ichthyosis prematurity syndrome: a case report and review of known mutations.

Pediatric dermatology - 1 Jan 2000

Kiely Clare, Devaney Deirdre, Fischer Judith, Lenane Patricia, Irvine Alan D

Abstract excerpt

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...

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Identifiers

PMID: 24889544
DOI: 10.1111/pde.12320

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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