1 | ARIH, ST14
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| Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing.
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| Alef T, Torres S, Hausser I, Metze D, Türsen U, Lestringant GG, Hennies HC.
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| J Invest Dermatol 129(4):862-9. Epub 2008 Oct 9.PMID: 18843291 2009
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2 | ARIH, ST14
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| Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.
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| Avrahami L, Maas S, Pasmanik-Chor M, Rainshtein L, Magal N, Smitt J, van Marle J, Shohat M, Basel-Vanagaite L.
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| Clin Genet 74(1):47-53. Epub 2008 Apr 28.
2008
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3 | ARIH, ST14
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| Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase.
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| 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.
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| Am J Hum Genet 80(3):467-77. Epub 2007 Jan 23. 2007
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