Article
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Mar 2003
Mhatre Anand N, Kim Yuil, Brodie Hillary A, Lalwani Anil K
Abstract excerpt
BACKGROUND: In 1992, a family with hereditary macrothrombocytopenia and progressive sensorineural hearing impairment without renal dysfunction was described. Recently, mutations in MYH9, a nonmuscle myosin heavy chain, have been found in several forms of hereditary macrothrombocytopenia. HYPOTHESIS: The hereditary macrothrombocytopenia and hearing loss in the previously reported family is due to a mutation in...
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