["True" microcephaly with dominant-inheritance chorioretinal dysplasia].
作者信息
Alzial C, Dufier J L, Brasnu C, Aicardi J, de Grouchy J
出版信息
Ann Genet. 1980;23(2):91-4.
PMID:6967291
Abstract
Within the heterogeneous group of microcephalies, a syndrome can be defined characterized by microcephaly, mental retardation, and chorioretinal dysplasia, often also with microphtalmia and embryonic remnants such as persistance of the primitive vitreum. Although this condition is usually considered autosomal recessive, the authors report a family observation consistent with dominant transmission.
摘要
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