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

Authors :: 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.
Bienvenu, T.
Source :: Journal of Medical Genetics. Nov, 2007, Vol. 44 Issue 11, p739, 6 p.
Publication Year :: 2007

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
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