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PMON20 Snyder Robinson Syndrome: A Rare Syndrome
INTRODUCTION: Snyder Robinson Syndrome (SRS) is a rare X-linked intellectual disability disorder caused by inactivating mutation in the spermine synthase (SMS) gene which is involved in polyamine biosynthesis. It was first described by Snyder and Robinson in 1969 and so far about 20 cases have been...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625262/ http://dx.doi.org/10.1210/jendso/bvac150.952 |