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Pyle disease (metaphyseal dysplasia) presenting in two adult sisters
Pyle's disease is an extremely rare skeletal disorder characterized by a benign course and an autosomal recessive genetic pattern of inheritance. Its causal mutation is still unknown. In the medical literature, fewer than 30 cases have been described to date. We report the case of two female si...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5128518/ https://www.ncbi.nlm.nih.gov/pubmed/27920870 http://dx.doi.org/10.1016/j.radcr.2016.10.003 |