Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium

Individuals with Phelan-McDermid syndrome (PMS) present with a wide range of developmental, medical, cognitive and behavioral abnormalities. Previous literature has begun to elucidate genotype–phenotype associations that may contribute to the wide spectrum of features. Here, we report results of gen...

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Detalles Bibliográficos
Autores principales: Levy, Tess, Foss-Feig, Jennifer H, Betancur, Catalina, Siper, Paige M, Trelles-Thorne, Maria del Pilar, Halpern, Danielle, Frank, Yitzchak, Lozano, Reymundo, Layton, Christina, Britvan, Bari, Bernstein, Jonathan A, Buxbaum, Joseph D, Berry-Kravis, Elizabeth, Powell, Craig M, Srivastava, Siddharth, Sahin, Mustafa, Soorya, Latha, Thurm, Audrey, Kolevzon, Alexander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8863417/
https://www.ncbi.nlm.nih.gov/pubmed/34559195
http://dx.doi.org/10.1093/hmg/ddab280

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