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Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Zazo Seco C, Oonk AM, Kunst HP, Domínguez-Ruiz M, García-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H. Schraders M, et al. Among authors: sezgin o. Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012. Am J Hum Genet. 2012. PMID: 23122587 Free PMC article.
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.
Kalay E, Sezgin O, Chellappa V, Mutlu M, Morsy H, Kayserili H, Kreiger E, Cansu A, Toraman B, Abdalla EM, Aslan Y, Pillai S, Akarsu NA. Kalay E, et al. Among authors: sezgin o. Am J Hum Genet. 2012 Jan 13;90(1):76-85. doi: 10.1016/j.ajhg.2011.11.014. Epub 2011 Dec 22. Am J Hum Genet. 2012. PMID: 22197489 Free PMC article.
129 results