Condition: DEAFNESS, AUTOSOMAL DOMINANT 17


rs121913657 in MYH9 gene and DEAFNESS, AUTOSOMAL DOMINANT 17 PMID 16969870 2006 Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

PMID 24186861 2014 MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

PMID 23409987 2013 Familial cases with MYH9 disorders caused by MYH9 S96L mutation.

PMID 26226608 2016 Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.

PMID 11752022 2002 Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.

PMID 11023810 2000 Both the precise role of MYH9 in the cochlea and the mechanism by which the R705H mutation leads to the DFNA17 phenotype (progressive hearing impairment and cochleosaccular degeneration) remain to be elucidated.