Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome

Chromosome 22q13.3 deletion (Phelan McDermid) syndrome (PMS) is a rare genetic neurodevelopmental disorder resulting from deletions or other genetic variants on distal 22q. Pathological variants of the SHANK3 gene have been identified, but terminal chromosomal deletions including SHANK3 are most com...

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Detalles Bibliográficos
Autores principales: Mitz, Andrew R., Philyaw, Travis J., Boccuto, Luigi, Shcheglovitov, Aleksandr, Sarasua, Sara M., Kaufmann, Walter E., Thurm, Audrey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838980/
https://www.ncbi.nlm.nih.gov/pubmed/29358616
http://dx.doi.org/10.1038/s41431-017-0042-x

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