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A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)

Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these abnormali...

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Detalhes bibliográficos
Main Authors: Brooks, A., Breuning, M., Osinga, J., Smagt, J., Catsman, C., Buys, C., Meijers, C., Hofstra, R.
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 1999
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734390/
https://ncbi.nlm.nih.gov/pubmed/10874640
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