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...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Sciendo
2017-10-01
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Series: | The EuroBiotech Journal |
Online Access: | https://doi.org/10.24190/ISSN2564-615X/2017/S1.24 |