Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused at least in part by haploinsufficiency of the SHANK3 gene, due to sequence variants in SHANK3 or subtelomeric 22q13.3 deletions. Phenotypic differences have been reported between PMS participants carrying small “class I” mut...

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Detalles Bibliográficos
Autores principales: Breen, Michael S., Fan, Xuanjia, Levy, Tess, Pollak, Rebecca M., Collins, Brett, Osman, Aya, Tocheva, Anna S., Sahin, Mustafa, Berry-Kravis, Elizabeth, Soorya, Latha, Thurm, Audrey, Powell, Craig M., Bernstein, Jonathan A., Kolevzon, Alexander, Buxbaum, Joseph D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9579712/
https://www.ncbi.nlm.nih.gov/pubmed/36276299
http://dx.doi.org/10.1016/j.xhgg.2022.100145

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9579712/
https://www.ncbi.nlm.nih.gov/pubmed/36276299
http://dx.doi.org/10.1016/j.xhgg.2022.100145

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