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[Carrier state in X-linked ocular albinism: a proof of the validity of Lyon's hypothesis in man].

作者信息

Rott H D, Rix R

出版信息

Klin Monbl Augenheilkd. 1984 Feb;184(2):128-9. doi: 10.1055/s-2008-1054426.

DOI:10.1055/s-2008-1054426
PMID:6716891
Abstract

The finding of an irregular patchy fundus pigmentation in the mother of a boy with ocular albinism was interpreted as Lyon's effect on the fundus, i.e., the mosaic-like effect caused by a pathologic X-chromosome in the female carrier. It was thus possible to diagnose the more frequent X-linked form in this family.

摘要

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Klin Monbl Augenheilkd. 1984 Feb;184(2):128-9. doi: 10.1055/s-2008-1054426.
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