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...

Descripción completa

Detalles Bibliográficos
Autores principales: Falco, Mariateresa, Amabile, Sonia, Acquaviva, Fabio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2017
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680963/
https://www.ncbi.nlm.nih.gov/pubmed/29138588
http://dx.doi.org/10.2147/TACG.S128455

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680963/
https://www.ncbi.nlm.nih.gov/pubmed/29138588
http://dx.doi.org/10.2147/TACG.S128455

Ejemplares similares