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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Bibliografiske detaljer
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
Format: Artigo
Sprog:Inglês
Udgivet: Blackwell Publishing Ltd 2014
Fag:
Case Reports
Online adgang: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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