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Clinical and Molecular Findings in Osteoporosis-Pseudoglioma Syndrome
Mutations in the low-density lipoprotein receptor–related protein 5 gene (LRP5) cause autosomal recessive osteoporosis-pseudoglioma syndrome (OPPG). We sequenced the coding exons of LRP5 in 37 probands suspected of having OPPG on the basis of the co-occurrence of severe congenital or childhood-onset...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society of Human Genetics
2005
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1271384/ https://ncbi.nlm.nih.gov/pubmed/16252235 |
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