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...

全面介紹

Na minha lista:
書目詳細資料
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
格式: Artigo
語言:Inglês
出版: Blackwell Publishing Ltd 2014
主題:
Case Reports
在線閱讀: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
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍