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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Hlavní autoři: Orellana, C, Bernabeu, Jordi, Monfort, Sandra, Rosello, Monica, Oltra, Juan Silvestre, Ferrer, Irene, Quiroga, Ramiro, Martinez-garay, Isabel, Martinez, Francisco
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2009
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3030307/
https://ncbi.nlm.nih.gov/pubmed/21686693
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.08.2008.0665
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