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RAI1 gene mutations: mechanisms of Smith–Magenis syndrome

Smith–Magenis syndrome (SMS; OMIM #182290) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. SMS is caused by interstitial 17p11.2 deletions, encompassing multiple genes and including the retin...

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Podrobná bibliografie
Vydáno v:Appl Clin Genet
Hlavní autoři: Falco, Mariateresa, Amabile, Sonia, Acquaviva, Fabio
Médium: Artigo
Jazyk:Inglês
Vydáno: Dove Medical Press 2017
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5680963/
https://ncbi.nlm.nih.gov/pubmed/29138588
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S128455
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