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Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.

Interstitial deletion of the short arm of chromosome 17 was detected in three patients. They all had a similar phenotype with mental retardation, behavioural problems, facial dysmorphism, brachycephaly, a broad face with a flat midface, and short and broad hands. All three cases were ascertained ove...

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Detalhes bibliográficos
Main Authors: Moncla, A, Livet, M O, Auger, M, Mattei, J F, Mattei, M G, Giraud, F
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015796/
https://ncbi.nlm.nih.gov/pubmed/1956064
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