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Article

Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing.

The Journal of investigative dermatology - 1 Apr 2009

Alef Thomas, Torres Serena, Hausser Ingrid, Metze Dieter, Türsen Umit, Lestringant Gilles G, Hennies Hans Christian

Abstract excerpt

Congenital ichthyosis encompasses a heterogeneous group of disorders of cornification. Isolated forms and syndromic ichthyosis can be differentiated. We have analyzed two consanguineous families from the United Arab Emirates and Turkey with an autosomal recessive syndrome of diffuse congenital ichthyosis, patchy follicular atrophoderma, generalized and diffuse nonscarring hypotrichosis, marked hypohidrosis, and...

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Identifiers

PMID: 18843291
DOI: 10.1038/jid.2008.311

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

Source receipt: pubmed, retrieved 6 Sept 2026.

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