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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...

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Detalles Bibliográficos
Autores principales: Soares, Diego Ximenes, Almeida, Amália Mapurunga, Barreto, André Rodrigues Façanha, Alencar e Silva, Ilze Jucá, de Castro, José Daniel Vieira, Magalhães Pinto, Francisco José, Dias, Daniel Aguiar, Aguiar, Lindenberg Barbosa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
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

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