Clinical and Genetic Aspects of Phelan–McDermid Syndrome: An Interdisciplinary Approach to Management

Phelan–McDermid syndrome (PMS) is a rare, heterogeneous, and complex neurodevelopmental disorder. It is generally caused by a heterozygous microdeletion of contiguous genes located in the distal portion of the long arm of chromosome 22, including the SHANK3 gene. Sequence variants of SHANK3, includi...

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Detalles Bibliográficos
Autores principales: Cammarata-Scalisi, Francisco, Callea, Michele, Martinelli, Diego, Willoughby, Colin Eric, Tadich, Antonio Cárdenas, Araya Castillo, Maykol, Lacruz-Rengel, María Angelina, Medina, Marco, Grimaldi, Piercesare, Bertini, Enrico, Nevado, Julián
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8955098/
https://www.ncbi.nlm.nih.gov/pubmed/35328058
http://dx.doi.org/10.3390/genes13030504

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