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Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy
We present two siblings affected with opsismodysplasia (OPS), a rare skeletal dysplasia caused by mutations in the inositol polyphosphate phosphatase-like 1 gene. The skeletal findings include short stature with postnatal onset micromelia, marked platyspondyly, squared metacarpals, delayed skeletal...
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| Publicado no: | Front Pediatr |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4476261/ https://ncbi.nlm.nih.gov/pubmed/26157786 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2015.00048 |
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