New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review

Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, <i>ALX4</i> (parietal foramina), <i>EXT2</i> (multiple exostoses), and &l...

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Bibliographic Details

Published in:	Brain Sciences
Main Authors:	Slavica Trajkova, Eleonora Di Gregorio, Giovanni Battista Ferrero, Diana Carli, Lisa Pavinato, Geoffroy Delplancq, Paul Kuentz, Alfredo Brusco
Format:	Article
Language:	English
Published:	MDPI AG 2020-10-01
Subjects:	Potocki-Shaffer infantile spasms <i>PHF21A</i> SCNA LSD-CoREST epileptic encephalopathy
Online Access:	https://www.mdpi.com/2076-3425/10/11/788