Prenatal Diagnosis of Zellweger Syndrome: Case Report

Zellweger syndrome (ZS) (Cerebro-Hepato-Renal syndrome) is a rare autosomal recessive disorder characterized by an absence or marked decrease in peroxisomes, resulting in profound muscular hypotonia and death in the neonatal period. The clinical presentation of ZS is dominated by craniofacial dysmo...

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Bibliographic Details
Main Authors: Bilgin Kütükcü, Meral Topçu, Sinan Beksaç, Ronald J. Wanders
Format: Article
Language:English
Published: Medical Network 2013-04-01
Series:Gynecology Obstetrics & Reproductive Medicine
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Online Access:https://gorm.com.tr/index.php/GORM/article/view/177
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