Vincent J Guen Simon Edvardson Nitay D Fraenkel Aviva Fattal-Valevski Chaim Jalas Irene Anteby Avraham Shaag Talia Dor David Gillis Eitan Kerem Jacqueline A Lees Pierre Colas Orly Elpeleg
10.1002/ajmg.a.38506
Am J Med Genet A
2018 Jan;176(1):92-98.
star syndrome agenesis of corpus callosum cilia exome retinitis pigmentosum
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/29130579/
Agenesis of Corpus Callosum / genetics Cyclin-Dependent Kinases Deafness / genetics Genetic Association Studies Homozygote Mutation Retinal Dysplasia / genetics
Agenesis of Corpus Callosum / genetics Cyclin-Dependent Kinases Deafness / genetics Genetic Association Studies Homozygote Mutation Retinal Dysplasia / genetics Case Reports Research Support, Non-U.S. Gov't Agenesis of Corpus Callosum / diagnosis Alleles Brain / abnormalities Brain / diagnostic imaging Child DNA Mutational Analysis Deafness / diagnosis Exome Facies Female Gene Expression Humans Pedigree Phenotype RNA, Messenger / genetics Retinal Dysplasia / diagnosis RNA, Messenger CDK10 protein, human Cyclin-Dependent Kinases
PMC6190576
29130579
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness
2018