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Article

A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family.

Journal of the American Academy of Dermatology - 1 Apr 2011

Tang Li, Liang Jianying, Wang Wenzhang, Yu Long, Yao Zhirong

Abstract excerpt

BACKGROUND: Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare congenital disorder. Missense mutations in the membrane-bound transcription factor protease, site 2 (MBTPS2) gene have recently been identified in patients with IFAP. OBJECTIVE: To determine whether Chinese patients with IFAP have MBTPS2 mutations. METHODS: We observed a large IFAP pedigree of 5 generations in a Chinese...

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Source

Identifiers

PMID: 21315478
DOI: 10.1016/j.jaad.2010.02.045

Genes

MBTPS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family.PMID 21315478Read ↗

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