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Article

Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient.

Clinical and experimental dermatology - 1 Mar 2014

Wang H J, Tang Z L, Lin Z M, Dai L L, Chen Q, Yang Y

Abstract excerpt

Mutations in MBTPS2 have been reported to cause a broad phenotypic spectrum of X-linked genodermatoses, including IFAP (ichthyosis follicularis; atrichia and photophobia) syndrome (OMIM 308205) with or without BRESHECK (brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism,...

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Identifiers

PMID: 24313295
DOI: 10.1111/ced.12248

Genes

MBTPS2

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Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient.PMID 24313295Read ↗

Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.Semantic proximity Read ↗

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Ichthyosis follicularis syndromes in patients with mutations in GJB2.Semantic proximity Read ↗

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

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

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

MBTPS2 mutation causes BRESEK/BRESHECK syndrome.Semantic proximity Read ↗

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.Semantic proximity Read ↗

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