Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report

• Главные авторы: Ting Zeng (Автор), Linyan Liao (Автор), Yi Guo (Автор), Xuxu Liu (Автор), Xiaobo Xiong (Автор), Yu Zhang (Автор), Shi Cen (Автор), Honghui Li (Автор), Shuzhang Wei (Автор)
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• Опубликовано: BMC, 2020-09-01T00:00:00Z.
• Предметы: article
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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...