Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report
Abstract 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...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-09-01
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Series: | BMC Pediatrics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12887-020-02309-0 |