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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Publicat a:Eur J Hum Genet
Autors principals: Mitz, Andrew R., Philyaw, Travis J., Boccuto, Luigi, Shcheglovitov, Aleksandr, Sarasua, Sara M., Kaufmann, Walter E., Thurm, Audrey
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2018
Matèries:
Review Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5838980/
https://ncbi.nlm.nih.gov/pubmed/29358616
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0042-x
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