Phenotypic Variability in Phelan–McDermid Syndrome and Its Putative Link to Environmental Factors

Phelan–McDermid syndrome (PMS) is a multi-systemic disorder characterized by both genetic and phenotypic variability. Genetic abnormalities causing PMS span from pathogenic variants of the SHANK3 gene to chromosomal rearrangements affecting the 22q13 region and leading to the loss of up to over nine...

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Detalles Bibliográficos
Autores principales: Boccuto, Luigi, Mitz, Andrew, Abenavoli, Ludovico, Sarasua, Sara M., Bennett, William, Rogers, Curtis, DuPont, Barbara, Phelan, Katy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Commentary
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8950073/
https://www.ncbi.nlm.nih.gov/pubmed/35328081
http://dx.doi.org/10.3390/genes13030528

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8950073/
https://www.ncbi.nlm.nih.gov/pubmed/35328081
http://dx.doi.org/10.3390/genes13030528

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