Novel Homozygous Nonsense Mutation in the LRP5 Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities that lead to vision loss. In this study, clinical findings and genetic study of two siblings with OPPG are presented. Whole exome sequencing of DNA enriched for...

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Detalles Bibliográficos
Autores principales: Heidari, Abolfazl, Homaei, Ali, Saffari, Fatemeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10448547/
https://www.ncbi.nlm.nih.gov/pubmed/34965700
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0186

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10448547/
https://www.ncbi.nlm.nih.gov/pubmed/34965700
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0186

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