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

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” and “hyers...

Szczegółowa specyfikacja

Zapisane w:
Opis bibliograficzny
Wydane w:Orphanet J Rare Dis
Główni autorzy: Masson, Julie, Demily, Caroline, Chatron, Nicolas, Labalme, Audrey, Rollat-Farnier, Pierre-Antoine, Schluth-Bolard, Caroline, Gilbert-Dussardier, Brigitte, Giuliano, Fabienne, Touraine, Renaud, Tordjman, Sylvie, Verloes, Alain, Testa, Giuseppe, Sanlaville, Damien, Edery, Patrick, Lesca, Gaetan, Rossi, Massimiliano
Format: Artigo
Język:Inglês
Wydane: BioMed Central 2019
Hasła przedmiotowe:
Letter to the Editor
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6545013/
https://ncbi.nlm.nih.gov/pubmed/31151468
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1094-5
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