S

 

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

  • 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

  • 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

  • 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

  • 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