CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures-Reference-Cited by-同舟云学术

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

Published:2021-05-21 Issue:8 Volume:185 Page:2602-2606
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Royer‐Bertrand Beryl¹^ORCID,Cisarova Katarina¹^ORCID,Niel Bütschi Florence¹,Foletti Giovanni²,Guinchat Vincent³^ORCID,Tran Christel¹^ORCID,Superti‐Furga Andrea¹^ORCID,Good Jean‐Marc¹^ORCID

Affiliation:

1. Division of Genetic Medicine Lausanne University Hospital (CHUV) Lausanne Switzerland

2. Neurology‐Epileptology, Institution of Lavigny Lavigny Switzerland

3. Department of Psychiatry, Psychiatric Section of Mental Development Lausanne University Hospital (CHUV) Prilly‐Lausanne Switzerland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62343

Reference13 articles.

1. A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome

2. Reassessment of the 12q15 deletion syndrome critical region

3. Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1

4. De novo variants in CNOT3 cause a variable neurodevelopmental disorder

5. Ccr4-Not complex: the control freak of eukaryotic cells

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1. Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci;npj Parkinson's Disease;2024-02-20

2. Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion;Clinical Dysmorphology;2022-12-27

3. Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype;Clinical Genetics;2022-11-24