De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. [electronic resource]
- American journal of human genetics 08 2019
- 413-424 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2019.06.014 doi
Adult Amino Acid Sequence Animals Body Dysmorphic Disorders--genetics Cerebellum--abnormalities Child Coloboma--genetics Developmental Disabilities--genetics Drosophila melanogaster--genetics Epilepsy--genetics Female Humans Infant Infant, Newborn Intellectual Disability--genetics Male Microfilament Proteins--genetics Mutation Nervous System Malformations--genetics Phenotype Sequence Homology WD40 Repeats--genetics Young Adult