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Nager acrofacial dysostosis: minor familial manifestations supporting dominant inheritance.

作者信息

Bonthron D T, Macgregor D F, Barr D G

机构信息

Edinburgh University, Human Genetics Unit, Western General Hospital, UK.

出版信息

Clin Genet. 1993 Mar;43(3):127-31. doi: 10.1111/j.1399-0004.1993.tb04436.x.

Abstract

We report on a girl with Nager acrofacial dysostosis, three of whose relatives had variable mild anomalies of the thumb. The possible relationship of such minor features to the radial limb anomalies in the proposita provides further evidence that the Nager syndrome can be the manifestation of a dominantly inherited disorder with very variable expressivity.

摘要

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