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

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
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
Series:Brain Sciences
Subjects:
Potocki-Shaffer
infantile spasms
<i>PHF21A</i>
SCNA
LSD-CoREST
epileptic encephalopathy
Online Access:https://www.mdpi.com/2076-3425/10/11/788

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https://www.mdpi.com/2076-3425/10/11/788

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