Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum

Only 12 patients with a duplication of the Williams-Beuren critical region (WBCR) have been reported to date, with variable developmental, psychomotor and language delay, in the absence of marked dysmorphic features. In this paper we present a new WBCR microduplication case, which supports the wide...

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Detalhes bibliográficos
Main Authors: Orellana, C, Bernabeu, J, Monfort, S, Roselló, M, Oltra, S, Ferrer, I, Quiroga, R, Martínez-Garay, I, Martínez, F
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3027765/
https://ncbi.nlm.nih.gov/pubmed/21731584
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.06.2009.1996
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