CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.

Details

Ressource 1Download: Royer-bertrand et al.pdf (806.77 [Ko])
State: Public
Version: Author's accepted manuscript
License: Not specified
Serval ID
serval:BIB_F533D2A35FEA
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
UNIL/CHUV
Title
CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.
Journal
American journal of medical genetics. Part A
Author(s)
Royer-Bertrand B., Cisarova K., Niel Bütschi F., Foletti G., Guinchat V., Tran C., Superti-Furga A., Good J.M.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Publication state
Published
Issued date
08/2021
Peer-reviewed
Oui
Volume
185
Number
8
Pages
2602-2606
Language
english
Notes
Publication types: Letter ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
URN
urn:nbn:ch:serval-BIB_F533D2A35FEA0
OAI-PMH
oai:serval.unil.ch:BIB_F533D2A35FEA
DOI
10.1002/ajmg.a.62343
Pubmed
34018673
Web of science
000652469100001
Create date
28/05/2021 16:19
Last modification date
21/07/2022 6:14
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