Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome
Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome
About this item
Full title
Author / Creator
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 and Grati, Francesca R.
Publisher
England: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
England: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
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 reciprocal duplication prenatal cases are described wi...
Alternative Titles
Full title
Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4184624
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4184624
Other Identifiers
ISSN
2050-0904
E-ISSN
2050-0904
DOI
10.1002/ccr3.48
