Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism
Haploinsufficiency of DYRK1A is a cause of a neurodevelopmental syndrome termed mental retardation autosomal dominant 7 (MRD7). Several truncation mutations, microdeletions and missense variants have been identified and result in a recognizable phenotypic profile, including microcephaly, intellectua...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
The Company of Biologists
2018-04-01
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Series: | Biology Open |
Subjects: | |
Online Access: | http://bio.biologists.org/content/7/4/bio032862 |