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1. Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

Author

Saillour, Y., Zanni, G., Des Portes, V., Heron, D., Guibaud, L., Iba-Zizen, M.T., Pedespan, J.L., Poirier, K., Castelnau, L., Julien, C., Franconnet, C., Bonthron, D., Porteous, M.E., Chelly, J., and Bienvenu, T.

Subjects
Fragile X syndrome -- Genetic aspects, Fragile X syndrome -- Research, Hydrocephalus -- Genetic aspects, Hydrocephalus -- Physiological aspects, Gene mutations -- Testing, Basal ganglia -- Physiological aspects, Calcification -- Physiological aspects, Health
Published
2007

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