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Radial ray aplasia and renal anomalies in father and son: a new syndrome.

作者信息

Sofer S, Bar-Ziv J, Abeliovich D

出版信息

Am J Med Genet. 1983 Jan;14(1):151-7. doi: 10.1002/ajmg.1320140121.

DOI:10.1002/ajmg.1320140121
PMID:6829604
Abstract

We describe a father and his son with bilateral absence of radius and thumb. Both have short stature, external ear malformation, and renal anomaly. In the son a high frequency of chromosome breaks in lymphocytes was found. We compare this familial syndrome to Fanconi anemia and other radial ray aplasia syndromes and conclude that we are dealing with a different entity, which apparently is inherited as a dominant trait.

摘要

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