Mukhopadhyay, Arijit

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