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A Novel CDC73 Gene Mutation in Hyperparathyroidism Jaw Tumor Syndrome Associated With Ectopic-pelvic Kidney

A 21-year-old woman presented with polyuria, fragility fractures, and a history of recurrent renal calculi, which was also present in her maternal aunt. Examination revealed an oval palpable mass in the neck. Biochemistry revealed a grossly elevated serum calcium, PTH, and serum alkaline phosphatase...

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Detalles Bibliográficos
Autores principales:	Danda, Vijay Sheker Reddy, Kyatham, Vivek, Paidipally, Srinivas Rao, Palli, Sharmila
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580433/ https://www.ncbi.nlm.nih.gov/pubmed/37909004 http://dx.doi.org/10.1210/jcemcr/luad098

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