英语词汇“usher syndrome, type 1c”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	usher syndrome, type 1c
释义	Usher syndrome, type 1C Usher syndrome, type 1C A heterogeneous condition (OMIM:276904) characterised by profound congenital sensorineural deafness, absent vestibular function, and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Molecular pathology Caused by defects of USH1C, which encodes a scaffold protein that plays a role in assembling Usher protein complexes and is required for normal hearing.
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Usher syndrome, type 1C