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