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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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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2013
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| Assuntos: | |
| Acesso em linha: | 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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