Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5

Osteoporosis-pseudoglioma (OPPG) syndrome is a very rare autosomal recessive disorder, caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. It manifests by severe juvenile osteoporosis with congenital or infancy-onset visual loss. We describe a case of OPPG due...

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Detalles Bibliográficos
Autores principales: Biha, Noura, Ghaber, S. M., Hacen, M. M., Collet, Corinne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745298/
https://www.ncbi.nlm.nih.gov/pubmed/26904320
http://dx.doi.org/10.1155/2016/9814928

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745298/
https://www.ncbi.nlm.nih.gov/pubmed/26904320
http://dx.doi.org/10.1155/2016/9814928

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