22q13.3 Delesyon Sendromu: Mental Retardasyonun Az Tanınan Bir Nedeni
Phelan-McDermid sendromu olarak da bilinen 22q13.3 delesyon sendromu, global gelişme geriliği, gecikmiş ve gelişmemiş konuşma, jenaralize hipotoni ve minör fiziksel anomaliler ile karekterizedir. Delesyon tipik olarak 22q13.3'ün terminal bandını içermekte ve ailesel veya denova translokasyon il...
Main Authors: | İlknur EROL, Özge SÜRMELİ ONAY, Zerrin YILMAZ, Özge ÖZER, Füsun ALEHAN, Feride ŞAHİN |
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Format: | Article |
Language: | English |
Published: |
Cukurova University
2015-09-01
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Series: | Cukurova Medical Journal |
Subjects: | |
Online Access: | https://dergipark.org.tr/tr/pub/cumj/issue/4203/55426?publisher=cu |
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