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Article

Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.

Clinical genetics - 1 Jul 2008

Avrahami L, Maas S, Pasmanik-Chor M, Rainshtein L, Magal N, Smitt Jhs, van Marle J, Shohat M, Basel-Vanagaite L

Abstract excerpt

Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease matriptase. No other families have so far been described since the original report. In this current report we describe a...

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Identifiers

PMID: 18445049
DOI: 10.1111/j.1399-0004.2008.01006.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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