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

Author:

Park So Young1,Eom Young Sil2,Choi Byoungho2,Yi Hyon-Seung2,Yu Seung-Hee2,Lee Kiyoung2,Jin Hyun-Seok3,Chung Yoon-Sok34,Jung Tae Sik5,Lee Sihoon2

Affiliation:

1. Department of Internal Medicine, Cheil General Hospital, Kwandong University College of Medicine, Seoul, Korea.

2. Department of Internal Medicine and Laboratory of Molecular Endocrinology, Gachon University School of Medicine, Incheon, Korea.

3. Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea.

4. Department of Endocrinology and Metaboilism, Ajou University School of Medicine, Suwon, Korea.

5. Department of Internal Medicine, Gyeongsang Institute of Health Science, Gyeongsang National University School of Medicine, Jinju, Korea.

Funder

National Research Foundation of Korea

Publisher

Korean Academy of Medical Sciences

Subject

General Medicine

Cited by 8 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism;The Journal of Clinical Endocrinology & Metabolism;2022-02-15

2. Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next‐Generation Sequencing Combined with TBX1 ‐MLPA;Journal of Bone and Mineral Research;2019-11-13

3. Search for Novel Mutational Targets in Human Endocrine Diseases;Endocrinology and Metabolism;2019

4. Hypoparathyroidism;Genetics of Bone Biology and Skeletal Disease;2018

5. Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene;International Journal of Pediatric Endocrinology;2017-01-25

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