Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2008.01006.x/fullpdf
Reference12 articles.
1. Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase;Basel-Vanagaite;Am J Hum Genet,2007
2. Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis;List;Oncogene,2002
3. Loss of proteolytically processed filaggrin caused by epidermal deletion of Matriptase/MT-SP1;List;J Cell Biol,2003
4. Matriptase: potent proteolysis on the cell surface;List;Mol Med,2006
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