CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation. [electronic resource]
Producer: 20100907Description: 281-91 p. digitalISSN:- 1432-1203
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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