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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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| Publicado no: | Case Rep Genet |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hindawi Publishing Corporation
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4745298/ https://ncbi.nlm.nih.gov/pubmed/26904320 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/9814928 |
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