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Article

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred.

Pediatric dermatology - 1 Jan 2000

Ming Andrew, Happle Rudolf, Grzeschik Karl-Heinz, Fischer Gayle

Abstract excerpt

Ichthyosis follicularis, alopecia and photophobia (IFAP) is a rare genodermatosis. Most patients have been men without significant family history. We present the largest kindred of IFAP reported to date in the medical literature clearly demonstrating X-linked inheritance. The gene defect has rece...

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Source

Identifiers

PMID: 19689518
DOI: 10.1111/j.1525-1470.2009.00946.x

Genes

MBTPS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19689518-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred.PMID 19689518Read ↗

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.Semantic proximity Read ↗

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