Citations for
1SMS, SROS
A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.
Becerra-Solano LE, Butler J, Castañeda-Cisneros G, McCloskey DE, Wang X, Pegg AE, Schwartz CE, Sánchez-Corona J, García-Ortiz JE.
Am J Med Genet A 149A(3):328-35. 2009
2SMS, SROS
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.
de Alencastro G, McCloskey DE, Kliemann SE, Maranduba CM, Pegg AE, Wang X, Bertola DR, Schwartz CE, Passos-Bueno MR, Sertié AL.
J Med Genet 45(8):539-43. Epub 2008 Jun 11. 2008
3SROS
X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis : linkage to Xp21.3-p22.12.
Arena JF, et al.
Am J Med Genet 64 : 50-58. 1996
4SMS, SROS
Gene localization and clinical redefinition of the Snyder-Robinson syndrome.
Arena JF, et al.
Am J Hum Genet 51 : A181. 1992