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Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.

Seven members of a large inbred kindred with autosomal recessive spondylocostal dysostosis were examined clinically, radiographically, and sonographically. The subjects were three adults, one adolescent, and three children under 3 years of age. One child was the offspring of a first cousin marriage...

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Autors principals: Turnpenny, P D, Thwaites, R J, Boulos, F N
Format: Artigo
Idioma:Inglês
Publicat: 1991
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016743/
https://ncbi.nlm.nih.gov/pubmed/1999829
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