CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

Am J Med Genet A. 2019 Dec;179(12):2506-2509. doi: 10.1002/ajmg.a.61356. Epub 2019 Sep 11.

Authors

Tomoko Uehara¹, Takatoshi Tsuchihashi², Mamiko Yamada¹, Hisato Suzuki¹, Toshiki Takenouchi³, Kenjiro Kosaki¹

Affiliations

¹ Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
² Department of Pediatrics, Kawasaki Municipal Hospital, Kanagawa, Japan.
³ Department of Pediatrics, Keio University Hospital, Tokyo, Japan.

PMID: 31512373
DOI: 10.1002/ajmg.a.61356

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't
Review

MeSH terms

Chromosome Deletion
Facies*
Female
Genetic Association Studies
Genetic Predisposition to Disease
Haploinsufficiency*
Humans
Loss of Function Mutation
Male
Neurodevelopmental Disorders / diagnosis*
Neurodevelopmental Disorders / genetics*
Phenotype*
Repressor Proteins / genetics*

Substances

CNOT2 protein, human
Repressor Proteins

Grants and funding