Genetic testing for enhanced S-cone syndrome
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for enhanced S-cone syndrome (ESCS). The disease has autosomal recessive inheritance, a prevalence of less than one per million, and is caused by mutations in the NR2E3 gene. Cli...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2017-10-01
|
| Series: | The EuroBiotech Journal |
| Online Access: | https://doi.org/10.24190/ISSN2564-615X/2017/S1.15 |