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...

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Detalles Bibliográficos
Autores principales: Zeng, Ting, Liao, Linyan, Guo, Yi, Liu, Xuxu, Xiong, Xiaobo, Zhang, Yu, Cen, Shi, Li, Honghui, Wei, Shuzhang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
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

Internet

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

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