Osteoporosis, Fractures, and Blindness Due to a Missense Mutation in the LRP5 Receptor

Familial exudative vitreoretinopathy (FEVR) is a genetic disorder whose presentation can include osteoporosis, multiple fractures, and incomplete retinal angiogenesis leading to retinal detachment and blindness if left untreated. Discussed herein are the cases of two pediatric siblings who presented...

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Detalles Bibliográficos
Autores principales: Littman, Jake, Phornphutkul, Chanika, Saade, Celine, Katarincic, Julia, Aaron, Roy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10040166/
https://www.ncbi.nlm.nih.gov/pubmed/36987449
http://dx.doi.org/10.2147/ORR.S400111

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10040166/
https://www.ncbi.nlm.nih.gov/pubmed/36987449
http://dx.doi.org/10.2147/ORR.S400111

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