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Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?

Internal hydrocephalus with partial hypoplasia of the cerebellum was observed in a severely mentally retarded boy who showed signs of ectodermal dysplasia. Diagnostic considerations are discussed. Reports of the triad mental retardation-CNS malformation-ectodermal dysplasia are rare. In 1989 we repo...

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Detalles Bibliográficos
Main Authors: Soekarman, D, Fryns, J P
Formato: Artigo
Idioma:Inglês
Publicado: 1993
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016309/
https://ncbi.nlm.nih.gov/pubmed/8474109
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