- Tytuł:
- Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
- Autorzy:
- Corporate Authors:
- Members of the Undiagnosed Diseases Network
- Źródło:
- Genome medicine [Genome Med] 2017 Aug 14; Vol. 9 (1), pp. 73. Date of Electronic Publication: 2017 Aug 14.
- Typ publikacji:
- Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
- MeSH Terms:
-
Mutation*
Phenotype*
CDC2 Protein Kinase/*genetics
Face/*abnormalities
Heart Defects, Congenital/*metabolismIntellectual Disability /*metabolism
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Heart Defects, Congenital/genetics ; Humans ; Infant ;Intellectual Disability /genetics ; Male ; Syndrome
Czasopismo naukowe