Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

Abstract Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including excessive talkativeness and social disinhibition, often defined as “overfriendliness” a...

Full description

Bibliographic Details
Main Authors: Julie Masson, Caroline Demily, Nicolas Chatron, Audrey Labalme, Pierre-Antoine Rollat-Farnier, Caroline Schluth-Bolard, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Renaud Touraine, Sylvie Tordjman, Alain Verloes, Giuseppe Testa, Damien Sanlaville, Patrick Edery, Gaetan Lesca, Massimiliano Rossi
Format: Article
Language:English
Published: BMC 2019-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Autism Spectrum Disorder
Williams Beuren syndrome
7q11.23 microdeletion
GTF2I
Whole exome sequencing
Online Access:http://link.springer.com/article/10.1186/s13023-019-1094-5

Internet

http://link.springer.com/article/10.1186/s13023-019-1094-5

Similar Items