Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.

Williams syndrome (WS) is generally characterized by mental deficiency, gregarious personality, dysmorphic facies, supravalvular aortic stenosis, and idiopathic infantile hypercalcemia. Patients with WS show allelic loss of elastin (ELN), exhibiting a submicroscopic deletion, at 7q11.23, detectable...

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Detalhes bibliográficos
Main Authors: Lowery, M C, Morris, C A, Ewart, A, Brothman, L J, Zhu, X L, Leonard, C O, Carey, J C, Keating, M, Brothman, A R
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801249/
https://ncbi.nlm.nih.gov/pubmed/7611295
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