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Article

A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation.

Journal of human genetics - 1 Mar 2011

Nakayama Junko, Iwasaki Nobuaki, Shin Kenji, Sato Hideo, Kamo Mariko, Ohyama Manabu, Noguchi Emiko, Arinami Tadao

Abstract excerpt

Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia and photophobia. Previous studies have identified five missense mutations in the membrane-bound transcription factor protease, site 2 (MBTPS2) gene in European patients with this syndrome. In this study, we detected the 1286G > A (Arg429His) mutation in...

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Source

Identifiers

PMID: 21179107
DOI: 10.1038/jhg.2010.163

Genes

MBTPS2

Provenance

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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A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation.PMID 21179107Read ↗

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