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...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Esti Wahyu Widowati, Sabrina Ernst, Ralf Hausmann, Gerhard Müller-Newen, Walter Becker
Formato:	Artigo
Idioma:	Inglês
Publicado em:	The Company of Biologists 2018-04-01
Colecção:	Biology Open
Assuntos:	DYRK1A Haploinsuffiency Intellectual disability Missense mutation MRD7
Acesso em linha:	http://bio.biologists.org/content/7/4/bio032862
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!