A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.

A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness. — المؤلف: Guen, Vincent J — American journal of medical genetics. Part A 20180621

المؤلف
Guen, Vincent J
النشر
American journal of medical genetics. Part A 20180621
الوصف
92-98 p.
الموضوعات
Agenesis of Corpus Callosum؛ Alleles؛ Brain؛ Child؛ Cyclin-Dependent Kinases؛ DNA Mutational Analysis؛ Deafness؛ Exome