Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

KEY CLINICAL MESSAGE: Copy losses/gains of the Williams–Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS prenatal diagnosis cannot be easily performed by ultrasound because only few phenotypic features can be assessed. Three WBS and the first recipr...

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Detalhes bibliográficos
Main Authors: Marcato, Livia, Turolla, Licia, Pompilii, Eva, Dupont, Celine, Gruchy, Nicolas, De Toffol, Simona, Bracalente, Gabriella, Bacrot, Severine, Troilo, Enzo, Tabet, Anne C, Rossi, Sabrina, Delezoïde, Anne L, Baldo, Demetrio, Leporrier, Nathalie, Maggi, Federico, Molin, Arnaud, Pilu, Gianluigi, Simoni, Giuseppe, Vialard, Francois, Grati, Francesca R
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2014
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4184624/
https://ncbi.nlm.nih.gov/pubmed/25356238
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.48
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