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Prenatal diagnosis of Norrie disease based on ultrasound scan findings.

08:00 EDT 20th August 2018 | BioPortfolio

Summary of "Prenatal diagnosis of Norrie disease based on ultrasound scan findings."

Norrie disease (ND;
OMIM:
310600) is a rare, X-linked, recessive genetic disease caused by mutations in the NDP gene and characterized by congenital blindness due to bilateral degenerative changes in neuroretina. About half of ND patients have intellectual disability. ND first manifests by ocular features during the third trimester of pregnancy after normal scan findings of the first two trimesters of pregnancy. This article is protected by copyright. All rights reserved.

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Journal Details

This article was published in the following journal.

Name: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
ISSN: 1469-0705
Pages:

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