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Autosomal recessive bestrophinopathy combined with neurofibromatosis type 1 in a patient

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 retrieved any...

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Detalles Bibliográficos
Autores principales:	Zhao, Bo, Chen, Lian, Zhang, Peng, He, Ke, Lei, Min, Zhang, Juan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088182/ https://www.ncbi.nlm.nih.gov/pubmed/37041514 http://dx.doi.org/10.1186/s12886-023-02905-5

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