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Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings

Pyknodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, deformity of the skull, osteosclerosis, hypoplasia of the clavicle, and bone fragility. Radiographs show increased bone density, osteosclerosis, and acroosteolysis of the terminal phalanges. The pycnodys...

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Detalhes bibliográficos
Publicado no:Int J Clin Exp Med
Main Authors: Valdes-Flores, Margarita, Hidalgo-Bravo, Alberto, Casas-Avila, L, Chima-Galan, Carmen, Hazan-Lasri, Eric J, Pineda-Gomez, Ernesto, Lopez-Estrada, Druso, Zenteno, Juan C
Formato: Artigo
Idioma:Inglês
Publicado em: e-Century Publishing Corporation 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4276157/
https://ncbi.nlm.nih.gov/pubmed/25550899
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