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