Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.

doi:10.1002/humu.22275

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Article

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.

Human mutation - 1 Apr 2013

Bornholdt Dorothea, Atkinson T Prescott, Bouadjar Bakar, Catteau Benoit, Cox Helen, De Silva Deepthi, Fischer Judith, Gunasekera Chalukya N, Hadj-Rabia Smaïl, Happle Rudolf, Holder-Espinasse Muriel, Kaminski Elke, König Arne, Mégarbané André, Mégarbané Hala, Neidel Ulrike, Oeffner Frank, Oji Vinzenz, Theos Amy, Traupe Heiko, Vahlquist Anders, van Bon Bregje W, Virtanen Marie, Grzeschik Karl-Heinz

Abstract excerpt

Missense mutations affecting membrane-bound transcription factor protease site 2 (MBTPS2) have been associated with Ichthyosis Follicularis with Atrichia and Photophobia (IFAP) syndrome with or without BRESHECK syndrome, with keratosis follicularis spinulosa decalvans, and Olmsted syndrome. This metalloprotease activates, by intramembranous trimming in conjunction with the protease MBTPS1, regulatory factors...

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Identifiers

PMID: 23316014
DOI: 10.1002/humu.22275

Genes

MBTPS2
MBTPS1

Variants

Provenance

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Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.PMID 23316014Read ↗

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