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Maternally inherited nonsyndromic hearing loss.
Friedman RA, Bykhovskaya Y, Sue CM, DiMauro S, Bradley R, Fallis-Cunningham R, Paradies N, Pensak ML, Smith RJ, Groden J, Li XC, Fischel-Ghodsian N. Friedman RA, et al. Among authors: pensak ml. Am J Med Genet. 1999 Jun 4;84(4):369-72. doi: 10.1002/(sici)1096-8628(19990604)84:4<369::aid-ajmg12>3.0.co;2-v. Am J Med Genet. 1999. PMID: 10340654
Mutation in the COCH gene is associated with superior semicircular canal dehiscence.
Hildebrand MS, Tack D, Deluca A, Hur IA, Van Rybroek JM, McMordie SJ, Muilenburg A, Hoskinson DP, Van Camp G, Pensak ML, Storper IS, Huygen PL, Casavant TL, Smith RJ. Hildebrand MS, et al. Among authors: pensak ml. Am J Med Genet A. 2009 Feb;149A(2):280-5. doi: 10.1002/ajmg.a.32618. Am J Med Genet A. 2009. PMID: 19161137 Free PMC article. No abstract available.
145 results