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