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...
Gardado en:
| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
The Company of Biologists
2018-04-01
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| Series: | Biology Open |
| Assuntos: | |
| Acceso en liña: | http://bio.biologists.org/content/7/4/bio032862 |
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