Autosomal recessive bestrophinopathy combined with neurofibromatosis type 1 in a patient

Autosomal recessive bestrophinopathy combined with neurofibromatosis type 1 in a patient

Abstract Background Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that may affect multiple systems of the body. Autosomal recessive bestrophinopathy (ARB) is a rare retinal dystrophy caused by autosomal recessively mutations in bestrophin 1 (BEST1) gene. So far, we have not retrie...

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Bibliographic Details
Main Authors: Bo Zhao, Lian Chen, Peng Zhang, Ke He, Min Lei, Juan Zhang
Format: Article
Language:English
Published: BMC 2023-04-01
Series:BMC Ophthalmology
Subjects:
Genetic diagnosis
Neurofibromatosis
Bestrophinopathy
BEST1
Online Access:https://doi.org/10.1186/s12886-023-02905-5

Internet

https://doi.org/10.1186/s12886-023-02905-5

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