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Paper Details

Case report: Expanding the phenotype of mutations from increased intracranial aneurysm risk to a neurodevelopmental disease.
Frontiers in Neurology
0
2022
ARHGEF17, DCLK1 phosphorylation consensus site, GEF, GEF genes, R542W, RhoGTPase, aneurysms, associated disorders, brain atrophy, brain malformation, c.1624C, g.11:73021307, guanine nucleotide, guanine nucleotide exchange factors, intellectual disability, intracranial aneurysm, intracranial aneurysms, microcephaly, motor dysfunction, neurodevelopmental disease, neurodevelopmental disorder, neurodevelopmental disorders, pS/pT, patient, speech delay, thin corpus callosum
Author NameAffiliation
Chiea Chuen KhorGenome Institute of Singapore
Chiea Chuen KhorSingapore Eye Research Institute
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Release 1.2