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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...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer London
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5624974/ https://www.ncbi.nlm.nih.gov/pubmed/28748388 http://dx.doi.org/10.1007/s00198-017-4150-9 |