De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca, Oguz

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