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A five‐generation family with sacral agenesis and spina bifida: Possible similarities with the mouse T‐locus

A five‐generation family with sacral agenesis and spina bifida: Possible similarities with the... In man, a malformation that recalls some of the defects associated with T/t mutants in the mouse is sacral agenesis. We report on a family with a high incidence of sacral malformation, ranging from a complete absence of the sacrum (SA), with or without spina bifida aperta, to a spina bifida occulta (SBO) that could only be detected by x‐ray. The condition appeared in a man with four children who were all affected, and thereafter, to varying degrees, in 17 of his 28 descendants. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

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References (36)

Publisher
Wiley
Copyright
Copyright © 1982 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.1320120410
pmid
6214946
Publisher site
See Article on Publisher Site

Abstract

In man, a malformation that recalls some of the defects associated with T/t mutants in the mouse is sacral agenesis. We report on a family with a high incidence of sacral malformation, ranging from a complete absence of the sacrum (SA), with or without spina bifida aperta, to a spina bifida occulta (SBO) that could only be detected by x‐ray. The condition appeared in a man with four children who were all affected, and thereafter, to varying degrees, in 17 of his 28 descendants.

Journal

American Journal of Medical Genetics Part AWiley

Published: Aug 1, 1982

Keywords: ; ; ; ;

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