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...

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Detalhes bibliográficos
Main Authors: Woo, Seong Ill, Song, Hyunju, Song, Kyung Eun, Kim, Dae Jung, Lee, Kwan Woo, Kim, Se Joong, Chung, Yoon-Sok
Formato: Artigo
Idioma:Inglês
Publicado em: Yonsei University College of Medicine 2006
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2687637/
https://ncbi.nlm.nih.gov/pubmed/16642557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3349/ymj.2006.47.2.255
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