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Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation
CONTEXT: Most heritable causes of low bone mass in children occur due to mutations affecting type 1 collagen. We describe two related patients with low bone mass and fracture without mutations in the type 1 collagen genes. CASE DESCRIPTION: We describe the index case of a 10-year-old girl with low-i...
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| Publicado no: | Bone Rep |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6197702/ https://ncbi.nlm.nih.gov/pubmed/30364642 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bonr.2018.09.001 |
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