Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism

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...

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Bibliographic Details
Main Authors: Esti Wahyu Widowati, Sabrina Ernst, Ralf Hausmann, Gerhard Müller-Newen, Walter Becker
Format: Article
Language:English
Published: The Company of Biologists 2018-04-01
Series:Biology Open
Subjects:
DYRK1A
Haploinsuffiency
Intellectual disability
Missense mutation
MRD7
Online Access:http://bio.biologists.org/content/7/4/bio032862

Internet

http://bio.biologists.org/content/7/4/bio032862

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