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Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.

We report eight cases of a lethal association of failure to thrive, facial dysmorphism, ambiguous genitalia, syndactyly, postaxial polydactyly, and internal developmental anomalies (Hirschsprung's disease, cardiac and renal malformation). This syndrome is likely to be autosomal recessive and re...

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Detalhes bibliográficos
Main Authors: Merrer, M L, Briard, M L, Girard, S, Mulliez, N, Moraine, C, Imbert, M C
Formato: Artigo
Idioma:Inglês
Publicado em: 1988
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015449/
https://ncbi.nlm.nih.gov/pubmed/2831368
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