Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome.

Abstract

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 MBTPS2 gene. Herein we describe a proband with IFAP syndrome with mild cutaneous manifestations and a novel MBTPS2 mutation in the N-terminal… (More)
DOI: 10.1111/pde.12115

Topics

1 Figure or Table

Cite this paper

@article{Izumi2013NovelMM, title={Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome.}, author={Kosuke Izumi and Alisha Wilkens and James R. Treat and Howard B Pride and Ian D. Krantz}, journal={Pediatric dermatology}, year={2013}, volume={30 6}, pages={e263-4} }