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Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
Basel-Vanagaite L, Attia R, Ishida-Yamamoto A, Rainshtein L, Ben Amitai D, Lurie R, Pasmanik-Chor M, Indelman M, Zvulunov A, Saban S, Magal N, Sprecher E, Shohat M. Basel-Vanagaite L, et al. Am J Hum Genet. 2007 Mar;80(3):467-77. doi: 10.1086/512487. Epub 2007 Jan 23. Am J Hum Genet. 2007. PMID: 17273967 Free PMC article.
155 results