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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Bibliografiska uppgifter
I publikationen:Eur J Hum Genet
Huvudupphovsmän: Mitz, Andrew R., Philyaw, Travis J., Boccuto, Luigi, Shcheglovitov, Aleksandr, Sarasua, Sara M., Kaufmann, Walter E., Thurm, Audrey
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group UK 2018
Ämnen:
Review Article
Länkar: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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