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Genetic testing for Refsum disease

Authors :
Abeshi Andi
Zulian Alessandra
Beccari Tommaso
Dundar Munis
D’Esposito Fabiana
Bertelli Matteo
Source :
The EuroBiotech Journal, Vol 1, Iss s1, Pp 89-91 (2017)
Publication Year :
2017
Publisher :
Sciendo, 2017.

Abstract

We reviewed the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Refsum disease. The disease has autosomal recessive inheritance, unknown prevalence, and is caused by variations in PEX7 and PHYH genes. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography, optical coherence tomography and phytanic acid assay. The genetic test is useful for confirming diagnosis, for differential diagnosis, couple risk assessment and access to clinical trials.

Subjects

Subjects :
Biotechnology
TP248.13-248.65

Details

Language :
English
ISSN :
2564615X and 26008211
Volume :
1
Issue :
s1
Database :
Directory of Open Access Journals
Journal :
The EuroBiotech Journal
Publication Type :
Academic Journal
Accession number :
edsdoj.26008211dfee4dcab4cfc7f7b9478f39
Document Type :
article
Full Text :
https://doi.org/10.24190/ISSN2564-615X/2017/S1.28