Genetic testing for Bietti crystalline dystrophy
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for Bietti crystalline dystrophy (BCD). The disease has autosomal recessive inheritance, a prevalence of 1 per 67 000, and is caused by mutations in the CYP4V2 gene. Clinical di...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Sciendo
2017-10-01
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| Col·lecció: | The EuroBiotech Journal |
| Accés en línia: | https://doi.org/10.24190/ISSN2564-615X/2017/S1.06 |
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