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A Novel Nonsense Mutation of the EXT1 Gene in an Argentinian Patient with Multiple Hereditary Exostoses: A Case Report

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Bibliographic Details
Published in:	Journal of bone and joint surgery. American volume 2012-06, Vol.94 (11), p.e76-e76
Main Authors:	Delgado, María Andrea, Sarrión, Patricia, Azar, Nydia, Zecchini, Lorena, Robledo, Hector Hugo, Segura, Florencio, Balcells, Susana, Grinberg, Daniel, Dodelson de Kremer, Raquel, Asteggiano, Carla Gabriela
Format:	Article
Language:	English
Subjects:	Adult Argentina Biopsy, Needle Bone Neoplasms - genetics Bone Neoplasms - pathology Bone Neoplasms - surgery Codon, Nonsense Exostoses, Multiple Hereditary - diagnostic imaging Exostoses, Multiple Hereditary - genetics Exostoses, Multiple Hereditary - pathology Exostoses, Multiple Hereditary - surgery Female Femur - diagnostic imaging Femur - pathology Follow-Up Studies Genetic Predisposition to Disease Humans Immunohistochemistry Magnetic Resonance Imaging - methods N-Acetylglucosaminyltransferases - genetics Osteochondroma - genetics Osteochondroma - pathology Osteochondroma - surgery Pedigree Pelvic Bones - diagnostic imaging Pelvic Bones - pathology Precancerous Conditions - genetics Precancerous Conditions - pathology Risk Assessment Tomography, X-Ray Computed - methods Treatment Outcome
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