A Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome

Snyder–Robinson syndrome (SRS, OMIM: 309583) is an X-linked intellectual disability (XLID) syndrome, characterized by a collection of clinical features including facial asymmetry, marfanoid habitus, hypertonia, osteoporosis and unsteady gait. It is caused by a significant decrease or loss of spermin...

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Hlavní autoři: Zhang, Zhe, Norris, Joy, Kalscheuer, Vera, Wood, Tim, Wang, Lin, Schwartz, Charles, Alexov, Emil, Van Esch, Hilde
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3749864/
https://ncbi.nlm.nih.gov/pubmed/23696453
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt229
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