Genetic testing for Norrie disease

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Norrie disease. The disease is caused by variations in the NDP gene. Its prevalence is currently unknown. Inheritance is X-linked recessive. Clinical diagnosis is based on cl...

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Bibliographic Details
Main Authors: Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Ziccardi Lucia, Bertelli Matteo
Format: Article
Language:English
Published: Sciendo 2017-10-01
Series:The EuroBiotech Journal
Online Access:https://doi.org/10.24190/ISSN2564-615X/2017/S1.24