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Snyder-Robinson syndrome
Snyder-Robinson syndrome, also known as spermine synthase deficiency, is an X-linked intellectual disability syndrome (OMIM #390583). First described by Drs. Snyder and Robinson in 1969, this syndrome is characterized by an asthenic body habitus, facial dysmorphism, broad-based gait, and osteoporosi...
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| Publicado no: | Autops Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
São Paulo, SP: Universidade de São Paulo, Hospital Universitário
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6140707/ https://ncbi.nlm.nih.gov/pubmed/30237987 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4322/acr.2018.031 |
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