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Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.

The association of microcephaly, mental retardation, cataracts, and hypogonadism is described in sibs (brother and sister) of consanguineous parents. These features are consistent with a diagnosis of Martsolf's syndrome. In addition, one sib had a cardiomyopathy while the other had cardiac fail...

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Detalhes bibliográficos
Main Authors: Harbord, M G, Baraitser, M, Wilson, J
Formato: Artigo
Idioma:Inglês
Publicado em: 1989
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015627/
https://ncbi.nlm.nih.gov/pubmed/2738902
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