A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome

A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome

Abstract Background Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hypotrichosis, hypohidrosis and follicular a...

Full description

Bibliographic Details
Main Authors: Leila Youssefian, Andrew Touati, Amir Hossein Saeidian, Omid Zargari, Sirous Zeinali, Hassan Vahidnezhad, Jouni Uitto
Format: Article
Language:English
Published: BMC 2017-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Ichthyosis
Hypotrichosis
Ichthyosis-hypotrichosis syndrome
ST14
Matriptase
Next-generation sequencing
Online Access:http://link.springer.com/article/10.1186/s13023-017-0728-8

Internet

http://link.springer.com/article/10.1186/s13023-017-0728-8

Similar Items