Bostwick, Bret L

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. [electronic resource] - Genome medicine 08 2017 - 73 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

1756-994X

10.1186/s13073-017-0463-8 doi


Adolescent
Adult
CDC2 Protein Kinase--genetics
Child
Child, Preschool
Face--abnormalities
Female
Heart Defects, Congenital--genetics
Humans
Infant
Intellectual Disability--genetics
Male
Mutation
Phenotype
Syndrome