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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Detalles Bibliográficos
Autores principales: Starks, Rachel, Kirby, Patricia, Ciliberto, Michael, Hefti, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: São Paulo, SP: Universidade de São Paulo, Hospital Universitário 2018
Materias:
Article / Autopsy Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140707/
https://www.ncbi.nlm.nih.gov/pubmed/30237987
http://dx.doi.org/10.4322/acr.2018.031

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140707/
https://www.ncbi.nlm.nih.gov/pubmed/30237987
http://dx.doi.org/10.4322/acr.2018.031

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