1. Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus. Issue 3 (March 1996) Authors: Jouet, M; Strain, L; Bonthron, D; Kenwrick, S Journal: Journal of medical genetics Issue: Volume 33:Issue 3(1996) Page Start: 248 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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. Issue 11 (6th July 2007) 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 Journal: Journal of medical genetics Issue: Volume 44:Issue 11(2007) Page Start: 739 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗