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

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 <i>SHANK3</i> gene due to a spectrum of anomalies in the terminal region of the long arm of chromosome 22. <i>SHANK3</i> is the abbreviation for SH3 domain and ankyrin repeat-c...

Full description

Bibliographic Details
Main Authors: Sarah Jesse, Jan Philipp Delling, Michael Schön, Tobias M Boeckers, Albert Ludolph, Makbule Senel
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:International Journal of Molecular Sciences
Subjects:
multiple sclerosis
autoimmune diseases
Phelan McDermid syndrome
genetic autism spectrum
regression, SHANK3
Online Access:https://www.mdpi.com/1422-0067/22/5/2311

Internet

https://www.mdpi.com/1422-0067/22/5/2311

Similar Items