Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations inMBTPS2

MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans

(2012) K. Fong et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

A Missense Mutation in the MBTPS2 Gene Underlies the X-Linked Form of Olmsted Syndrome

(2012) Alireza Haghighi et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome: A Case Report and a Pathological Insight Into Pilosebaceous Anomaly

(2011) Mariko Kamo et al.   AMERICAN JOURNAL OF DERMATOPATHOLOGY

MBTPS2 mutation causes BRESEK/BRESHECK syndrome

(2011) Misako Naiki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome

(2011) Frank Oeffner et al.   EXPERIMENTAL DERMATOLOGY

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

(2011) Li Tang et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

(2011) Hala Mégarbané et al.   Orphanet Journal of Rare Diseases

A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family

(2010) Y.G. Ding et al.   BRITISH JOURNAL OF DERMATOLOGY

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

(2010) Emmelien Aten et al.   HUMAN MUTATION

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

(2010) Junko Nakayama et al.   JOURNAL OF HUMAN GENETICS

New insights into S2P signaling cascades: Regulation, variation, and conservation

(2010) Gu Chen et al.   PROTEIN SCIENCE

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

(2009) Frank Oeffner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome Due to Mutation of the Gene MBTPS2 in a Large Australian Kindred

(2009) Andrew Ming et al.   PEDIATRIC DERMATOLOGY