Novel   MBTPS 2  Missense Mutation in the N‐Terminus Transmembrane Domain in a Patient with Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome | Zendy

Izumi Kosuke | Zendy; Wilkens Alisha | Zendy; Treat James R. | Zendy; Pride Howard B. | Zendy; Krantz Ian D. | Zendy

Premium

Novel MBTPS 2 Missense Mutation in the N‐Terminus Transmembrane Domain in a Patient with Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome

Author(s) -

Izumi Kosuke,

Wilkens Alisha,

Treat James R.,

Pride Howard B.,

Krantz Ian D.

Publication year - 2013

Publication title -

pediatric dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.542

H-Index - 73

eISSN - 1525-1470

pISSN - 0736-8046

DOI - 10.1111/pde.12115

Subject(s) - photophobia , missense mutation , ichthyosis , medicine , genodermatosis , dermatology , congenital ichthyosis , proband , genetics , mutation , ophthalmology , biology , gene

Ichthyosis follicularis, alopecia, and photophobia ( IFAP ) syndrome is an X‐linked dominant condition characterized by the triad of ichthyosis follicularis, alopecia, and photophobia caused by mutations in the MBTPS 2 gene. Herein we describe a proband with IFAP syndrome with mild cutaneous manifestations and a novel MBTPS 2 mutation in the N‐terminal transmembrane domain.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here

Accelerating Research