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