Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring

Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of SHANK3 results in 22q13 deletion syndrome or Phelan-McDermid syndrome (PMS) and causes a...

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Detalles Bibliográficos
Autores principales: Kolevzon, Alexander, Angarita, Benjamin, Bush, Lauren, Wang, A Ting, Frank, Yitzchak, Yang, Amy, Rapaport, Robert, Saland, Jeffrey, Srivastava, Shubhika, Farrell, Cristina, Edelmann, Lisa J, Buxbaum, Joseph D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362650/
https://www.ncbi.nlm.nih.gov/pubmed/25784960
http://dx.doi.org/10.1186/1866-1955-6-39

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