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A Case Report of Familial Benign Hypocalciuric Hypercalcemia: A Mutation in the Calcium-Sensing Receptor Gene
Familial benign hypocalciuric hypercalcemia (FBHH) is an autosomal dominant trait with high penetrance, clinically manifestating a relatively benign, lifelong, persistent hypercalcemia and hypocalciuria without hypercalcemic related complications. The calcium-sensing receptor (CaSR) plays an importa...
Autores principales: | Woo, Seong Ill, Song, Hyunju, Song, Kyung Eun, Kim, Dae Jung, Lee, Kwan Woo, Kim, Se Joong, Chung, Yoon-Sok |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Yonsei University College of Medicine
2006
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687637/ https://www.ncbi.nlm.nih.gov/pubmed/16642557 http://dx.doi.org/10.3349/ymj.2006.47.2.255 |
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