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

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Bibliographic Details
Published in:	American journal of medical genetics. Part A Vol. 185; no. 8; pp. 2602 - 2606
Main Authors:	Royer‐Bertrand, Beryl, Cisarova, Katarina, Niel Bütschi, Florence, Foletti, Giovanni, Guinchat, Vincent, Tran, Christel, Superti‐Furga, Andrea, Good, Jean‐Marc
Format:	Journal Article
Language:	English
Published:	Hoboken, USA John Wiley & Sons, Inc 01-08-2021 Wiley Subscription Services, Inc
Subjects:	Adult Autism Autistic Disorder - diagnosis Autistic Disorder - genetics Facies Genetic Association Studies Genetic Predisposition to Disease Haploinsufficiency Humans Intellectual disabilities Intellectual Disability - diagnosis Intellectual Disability - genetics Loss of Function Mutation Male Phenotype Repressor Proteins - genetics Seizures Seizures - diagnosis Seizures - genetics
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Description
Bibliography:	Funding information Department of Medicine of the Lausanne University Hospital SourceType-Scholarly Journals-1 ObjectType-Correspondence-1 content type line 23 ObjectType-Review-2 ObjectType-Case Study-4 ObjectType-Report-3 ObjectType-Article-5
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.62343