22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation

22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation

Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.3 and has been associated with both familial and d...

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Bibliographic Details
Main Authors: ilknur Erol, Ozge Surmeli Onay, Zerrin Yilmaz, Ozge Ozer, Fusun Alehan, Feride iffet sahin
Format: Article
Language:English
Published: Cukurova University 2015-03-01
Series:Çukurova Üniversitesi Tıp Fakültesi Dergisi
Subjects:
22q13.3 deletion syndrome
Aphasia
Epilepsy
Mental retardation
Online Access:http://www.scopemed.org/fulltextpdf.php?mno=163580

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