Snyder-Robinson sendromu
Kalıtsal - XLR
Yüz asimetrik
Alt dudak iri
Çukur damak
Yarık damak
Uvula bifida
Astenik vücut yapısı
Ürogenital anomaliler
Toraks anomalileri
Osteoporoz ve kırıklar
Kifoskolyoz
Konuşamama/burundan konuşma
İleri düzeyde entellektüel yetersizlik
Hipotoni
Yürümede güçlük
Epileptik ataklar
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de Alencastro G, McCloskey DE, Kliemann SE, et al. 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 (Letter). Journal of Medical Genetics, 45: 539-543, 2008
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Becerra-Solano LE, Butler J, Castaneda-Cisneros G, et al. A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. American Journal of Medical Genetics A, 149A:328–335, 2009
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Zhang Z, Norris J, Kalscheuer V, et al. A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Human Molecular Genetics, 22:3789–3797, 2013
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Peron A, Spaccini L, Norris J, et al. Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype. American Journal of Medical Genetics A, 161A(9):2316-2320, 2013