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Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome?

We present two unrelated children, a male and a female, with signs of ectodermal dysplasia, mental retardation, agenesis/ dysgenesis of the corpus callosum, and primary hypothyroidism. Reports of ectodermal dysplasia with CNS malformations or hypothyroidism or both are rare. We suggest that the cond...

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Autores principales: Silengo, M, Silvestro, L, Capizzi, G, Lerone, M, Seri, M, Rosaia, L, Romeo, G
Formato: Artigo
Lenguaje:Inglês
Publicado: 1998
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051223/
https://ncbi.nlm.nih.gov/pubmed/9507398
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