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...

Descripción completa

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

Internet

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

Ejemplares similares