A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24.
نویسندگان
چکیده
K Van Den Bogaert, E M R De Leenheer, W Chen, Y Lee, P Nürnberg, R J E Pennings, K Vanderstraeten, M Thys, C W R J Cremers, R J H Smith, G Van Camp . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus.
OBJECTIVE To perform chromosomal mapping and clinical analysis of hereditary otosclerosis linked to the fourth locus for otosclerosis (OTSC4) in an Israeli family. DESIGN Pedigree study. SETTING A genetics of hearing loss research laboratory, a clinical genetics laboratory, a center for speech and hearing, and an otolaryngology department at a university and medical centers in Israel. SUB...
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Clinical otosclerosis (OMIM 166800/605727) has a prevalence of 0.2-1% among white adults, making it the single most common cause of hearing impairment in this group. It is caused by abnormal bone homeostasis of the otic capsule with the consequent development of sclerotic foci that invade the stapedio-vestibular joint (oval window) interfering with free motion of the stapes. Impaired ossicular ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 41 6 شماره
صفحات -
تاریخ انتشار 2004