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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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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Jesse, Sarah, Delling, Jan Philipp, Schön, Michael, Boeckers, Tobias M, Ludolph, Albert, Senel, Makbule
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7956287/
https://ncbi.nlm.nih.gov/pubmed/33669083
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22052311
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