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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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Bibliografische gegevens
Hoofdauteurs: Harbord, M G, Baraitser, M, Wilson, J
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1989
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015627/
https://ncbi.nlm.nih.gov/pubmed/2738902
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