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

Autor: M. T. Iba-Zizen, Ginevra Zanni, V. des Portes, Jamel Chelly, Mary Porteous, Thierry Bienvenu, Delphine Héron, David T. Bonthron, J. L. Pedespan, C. Julien, Karine Poirier, C. Franconnet, L. Castelnau, Yoann Saillour, L. Guibaud

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, 2007, 44 (11), pp.739-44. ⟨10.1136/jmg.2007.051334⟩
Journal of Medical Genetics, BMJ Publishing Group, 2007, 44 (11), pp.739-44. ⟨10.1136/jmg.2007.051334⟩

International audience; Fried syndrome, first described in 1972, is a rare X-linked mental retardation that has been mapped by linkage to Xp22. Clinical characteristics include mental retardation, mild facial dysmorphism, calcifications of basal gang

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d053c2bf0886c77605374cb05fc0cebd
https://hal.science/hal-00655309