Phelan McDermid Syndrome: Multiple Sclerosis as a Rare but Treatable Cause for Regression—A Case Report

Phelan McDermid syndrome (PMcD) is a neurogenetic disease associated with haploinsufficiency of the SHANK3 gene due to a spectrum of anomalies in the terminal region of the long arm of chromosome 22. SHANK3 is the abbreviation for SH3 domain and ankyrin repeat-containing protein, a gene that encodes...

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Detalles Bibliográficos
Autores principales: Jesse, Sarah, Delling, Jan Philipp, Schön, Michael, Boeckers, Tobias M, Ludolph, Albert, Senel, Makbule
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7956287/
https://www.ncbi.nlm.nih.gov/pubmed/33669083
http://dx.doi.org/10.3390/ijms22052311

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