Pages that link to "Q34399305"

The following pages link to X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12. (Q34399305):

Displaying 17 items.

• Renpenning syndrome maps to Xp11. (Q24538917) (← links)
• Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22. (Q33679076) (← links)
• X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome (Q34265101) (← links)
• A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation (Q34444799) (← links)
• Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome (Q35596819) (← links)
• N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics (Q40736578) (← links)
• XLMR genes: update 1996. (Q41127106) (← links)
• Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families (Q41575180) (← links)
• The impact of spermine synthase (SMS) mutations on brain morphology (Q42122757) (← links)
• A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome (Q42563242) (← links)
• Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1. (Q48207636) (← links)
• Spermine Synthase Deficiency Resulting in X-Linked Intellectual Disability (Snyder–Robinson Syndrome) (Q51814413) (← links)
• Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry (Q51819944) (← links)
• Spermine synthase activity affects the content of decarboxylated S-adenosylmethionine (Q51833586) (← links)
• A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. (Q55510851) (← links)
• Snyder-Robinson syndrome (Q58740414) (← links)
• Polyamine Homeostasis in Snyder-Robinson Syndrome (Q60910182) (← links)