CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation. [electronic resource]
- Human genetics Sep 2010
- 281-91 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1432-1203
10.1007/s00439-010-0848-x doi
Abnormalities, Multiple--genetics Adult Animals Base Sequence Chromosome Inversion Chromosomes, Human, Pair 6--genetics Cyclin-Dependent Kinase 8--genetics Cyclin-Dependent Kinases--genetics DNA Primers--genetics Drosophila--genetics Drosophila Proteins--genetics Female Humans In Situ Hybridization, Fluorescence Intellectual Disability--genetics Karyotyping Microcephaly--genetics Retina--abnormalities Species Specificity