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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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Bibliografiske detaljer
Main Authors: Kohn, G, Elrayyes, E R, Makadmah, I, Rösler, A, Grünebaum, M
Format: Artigo
Sprog:Inglês
Udgivet: 1987
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050103/
https://ncbi.nlm.nih.gov/pubmed/3612708
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