Phelan-McDermid syndrome: a case report and review of the literature

Phelan-McDermid syndrome: a case report and review of the literature

Background: Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a heterozygous deletion in chromosome 22 in the 22q13 region or by a heterozygous pathogenic variant in SHANK3 gene. PMS is one of the important etiologies in children presenting mainly with intellectual delay, epilepsy...

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Bibliographic Details
Main Authors:	Osama Yousef Muthaffar, Anas Saeed Alyazidi
Format:	Article
Language:	English
Published:	Discover STM Publishing Ltd 2022-12-01
Series:	Journal of Biochemical and Clinical Genetics
Subjects:	shank3 autism pediatrics seizures chromosomal abnormality congenital anomaly
Online Access:	http://www.ejmanager.com/fulltextpdf.php?mno=95040

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