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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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| Veröffentlicht in: | Int J Clin Exp Med |
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| Hauptverfasser: | , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
e-Century Publishing Corporation
2014
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4276157/ https://ncbi.nlm.nih.gov/pubmed/25550899 |
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