Snyder Robinson syndrome

Common Name(s)

Snyder Robinson syndrome

Snyder-Robinson syndrome is an inherited condition that is characterized by moderate intellectual disability, hypotonia, difficulty walking, osteoporosis, kyphoscoliosis, and facial asymmetry. It has been described in 11 males. This condition is caused by mutations in the SMS gene and is inherited in an X-linked recessive fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Snyder Robinson syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Snyder Robinson syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Computational analysis of missense mutations causing Snyder-Robinson syndrome.
 

Author(s): Zhe Zhang, Shaolei Teng, Liangjiang Wang, Charles E Schwartz, Emil Alexov

Journal: Hum. Mutat.. 2010 Sep;31(9):1043-9.

 

The Snyder-Robinson syndrome is caused by missense mutations in the spermine sythase gene that encodes a protein (SMS) of 529 amino acids. Here we investigate, in silico, the molecular effect of three missense mutations, c.267G>A (p.G56S), c.496T>G (p.V132G), and c.550T>C (p.I150T) ...

Last Updated: 2 Sep 2010

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

Author(s): L E Becerra-Solano, J Butler, G Castañeda-Cisneros, D E McCloskey, X Wang, A E Pegg, C E Schwartz, J Sánchez-Corona, J E García-Ortiz

Journal: Am. J. Med. Genet. A. 2009 Mar;149A(3):328-35.

 

Snyder-Robinson syndrome (SRS, OMIM 309583) is a rare X-linked syndrome characterized by mental retardation, marfanoid habitus, skeletal defects, osteoporosis, and facial asymmetry. Linkage analysis localized the related gene to Xp21.3-p22.12, and a G-to-A transition at point +5 of ...

Last Updated: 3 Mar 2009

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Reviews from the PubMed Database

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The terms "Snyder Robinson syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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