遗传性玻璃体视网膜变性、唇腭裂、耳聋和骨骼发育异常。
Hereditary vitreoretinal degeneration, cleft lip and palate, deafness, and skeletal dysplasia.
作者信息
Regenbogen L, Godel V
出版信息
Am J Ophthalmol. 1980 Mar;89(3):414-8. doi: 10.1016/0002-9394(80)90013-6.
PMID:6966133
Abstract
Two brothers and their mother had vitreoretinal degeneration associated with cleft palate, a peculiar physiognomy, skeletal anomalies, and sensorineural deafness. The pattern of inheritance in this family suggested autosomal dominant transmission.
摘要
两兄弟及其母亲患有与腭裂、特殊面容、骨骼异常和感音神经性耳聋相关的玻璃体视网膜变性。这个家族的遗传模式提示为常染色体显性遗传。
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