Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

We undertook clinical evaluation (32 cases) and molecular evaluation (31 cases) of unrelated patients affected with Smith-Magenis syndrome (SMS) associated with an interstitial deletion of band p11.2 of chromosome 17. Patients were evaluated both clinically and electrophysiologically for peripheral...

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Detalhes bibliográficos
Main Authors: Greenberg, F, Guzzetta, V, Montes de Oca-Luna, R, Magenis, R E, Smith, A C, Richter, S F, Kondo, I, Dobyns, W B, Patel, P I, Lupski, J R
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1686451/
https://ncbi.nlm.nih.gov/pubmed/1746552
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