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Genetic and Clinical Characteristics of Korean Patients with Isolated Hypoparathyroidism: From the Korean Hypopara Registry Study

Isolated hypoparathyroidism (IH) shows heterogeneous phenotypes and can be caused by defects in a variety of genes. The goal of our study was to determine the clinical features and to analyze gene mutations in a large cohort of Korean patients with sporadic or familial IH. We recruited 23 patients....

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Detalhes bibliográficos
Main Authors: Park, So Young, Eom, Young Sil, Choi, Byoungho, Yi, Hyon-Seung, Yu, Seung-Hee, Lee, Kiyoung, Jin, Hyun-Seok, Chung, Yoon-Sok, Jung, Tae Sik, Lee, Sihoon
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Academy of Medical Sciences 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3792604/
https://ncbi.nlm.nih.gov/pubmed/24133354
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2013.28.10.1489
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