ARHGEF9 disease Phenotype clarification and genotype-phenotype correlation

Alber, M; Kalscheuer, VM; Marco, E; Sherr, E; Lesca, G; Till, M; Gradek, G; Wiesener, A; Korenke, C; Mercier, S; Becker, F; Yamamoto, T; Scherer, SW; Marshall, CR; Walker, S; Dutta, UR; Dalal, AB; Suckow, V; Jamali, P; Kahrizi, K; Najmabadi, H; Minas

Alber, M (reprint author), Hosp Sick Children, Dept Paediat Neurol, Toronto, ON, Canada.

NEUROLOGY-GENETICS, 2017; 3 (3):

Abstract

Objective: We aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations. Methods: Patients with mutation......

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