Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.
Jouan, Loubna
Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum. [electronic resource] - European journal of human genetics : EJHG Apr 2016 - 607-10 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1476-5438
10.1038/ejhg.2015.156 doi
Adult
Agenesis of Corpus Callosum--diagnosis
Cell Cycle Proteins
Exome
Female
Heterozygote
Humans
Intracellular Signaling Peptides and Proteins--genetics
Male
Middle Aged
Mutation, Missense
Nerve Tissue Proteins--genetics
Siblings
Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum. [electronic resource] - European journal of human genetics : EJHG Apr 2016 - 607-10 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1476-5438
10.1038/ejhg.2015.156 doi
Adult
Agenesis of Corpus Callosum--diagnosis
Cell Cycle Proteins
Exome
Female
Heterozygote
Humans
Intracellular Signaling Peptides and Proteins--genetics
Male
Middle Aged
Mutation, Missense
Nerve Tissue Proteins--genetics
Siblings