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Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report
BACKGROUND: Optic atrophy 1 (OPA1) gene mutations are associated with dominantly inherited optic neuropathy resulting in a progressive loss of visual acuity. Compound heterozygous or homozygous variants that lead to severe phenotypes, including Behr syndrome, have been reported rarely. CASE PRESENTA...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469303/ https://www.ncbi.nlm.nih.gov/pubmed/32883255 http://dx.doi.org/10.1186/s12887-020-02309-0 |