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PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants
SUMMARY: Altogether 95 children with primary bone fragility were screened for variants in PLS3, the gene underlying X-linked osteoporosis. Two children with multiple peripheral and spinal fractures and low BMD had novel disease-causing PLS3 variants. Children with milder phenotypes had no pathogenic...
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| Publicado no: | Osteoporos Int |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer London
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5624974/ https://ncbi.nlm.nih.gov/pubmed/28748388 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00198-017-4150-9 |
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