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Spondyloepiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation.

A new variant of spondyloepiphyseal dysplasia tarda with mild to moderate mental retardation is described in three daughters born to healthy, consanguineous parents. The mode of inheritance is compatible with that of an autosomal recessive disorder. The identification of this variant is important, a...

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Detalhes bibliográficos
Main Authors: Kohn, G, Elrayyes, E R, Makadmah, I, Rösler, A, Grünebaum, M
Formato: Artigo
Idioma:Inglês
Publicado em: 1987
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050103/
https://ncbi.nlm.nih.gov/pubmed/3612708
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