Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

BACKGROUND: Loss of function mutations in the spermine synthase gene (SMS) have been reported to cause a rare X-linked intellectual disability known as Snyder-Robinson Syndrome (SRS). Besides intellectual disability, SRS is also characterized by reduced bone density, osteoporosis and facial dysmorph...

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Publicado no:BMC Med Genet
Main Authors: Qazi, Talal J., Wu, Qiao, Aierken, Ailikemu, Lu, Daru, Bukhari, Ihtisham, Hussain, Hafiz M. J., Yang, Jingmin, Mir, Asif, Qing, Hong
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7446199/
https://ncbi.nlm.nih.gov/pubmed/32838743
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01095-x
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