Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family
Author:
Affiliation:
1. Key Laboratory of Birth Defects; Department of Genetics; Wenzhou Central Hospital; Wenzhou China
2. Key Laboratory of Medical Genetics; School of Laboratory Medicine and Life Science; Wenzhou Medical University; Wenzhou China
Funder
Medicine and Health of Science and Technology Program of Zhejiang
Major Program of Science and Technology of Wenzhou
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ijd.14129/fullpdf
Reference10 articles.
1. Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature;Zhang;Clin Exp Dermatol,2016
2. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome;Megarbane;Orphanet J Rare Dis,2011
3. MBTPS2 mutation causes BRESEK/BRESHECK syndrome;Naiki;Am J Med Genet A,2012
4. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response;Oeffner;Am J Hum Genet,2009
5. A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family;Tang;J Am Acad Dermatol,2011
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