Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.

Pierre Cacciagli,Julie Sutera-Sardo,Ana Borges-Correia,J. Roux,I. Dorboz,J. Desvignes,C. Badens,M. Delepine,M. Lathrop,P. Cau,N. Lévy,N. Girard,P. Sarda,O. Boespflug-Tanguy,L. Villard

Published 2013 in American Journal of Human Genetics

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