Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly.

Alwadei, Ali H

Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly. [electronic resource] - Developmental medicine and child neurology Dec 2016 - 1317-1322 p. digital

Publication Type: Case Reports; Journal Article

1469-8749

10.1111/dmcn.13250 doi


Adolescent
Agenesis of Corpus Callosum--genetics
Carrier Proteins--genetics
Child
Epilepsy--genetics
Female
Humans
Intellectual Disability--genetics
Male
Microcephaly--genetics
Muscle Hypotonia--genetics
Mutation
Pedigree