A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome

Author:

Becerra-Solano L.E.,Butler J.,Castañeda-Cisneros G.,McCloskey D.E.,Wang X.,Pegg A.E.,Schwartz C.E.,Sánchez-Corona J.,García-Ortiz J.E.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Some examples of the inheritance of mental deficiency: Apparently sex-linked idiocy and microcephaly;Allan;Am J Ment Defic,1944

2. Gene localization and clinical redefinition of the Snyder-Robinson syndrome;Arena;Am J Hum Genet,1992

3. X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: Linkage to Xp21.3-p22.12;Arena;Am J Med Genet,1996

4. Allan-Herndon-Dudley syndrome: Clinical and linkage studies on a second family;Bialer;Am J Med Genet,1992

5. X-linked spermine synthase gene (SMS) defect: The first polyamine deficiency syndrome;Cason;Europ J Hum Genet,2003

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