Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome.

@article{Mizusawa2006GeneticAI,
  title={Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome.},
  author={Noriko Mizusawa and Shinya Uchino and Takeo Iwata and Masaru Tsuyuguchi and Yasuyo Suzuki and Tsunenori Mizukoshi and Yoshio Yamashita and Akihiro Sakurai and Shinichi Suzuki and Mutsuo Beniko and Hideki Tahara and Masato Ishigami Fujisawa and Nobuyuki Kamata and Kenji Fujisawa and Tohru Yashiro and Daisuke Nagao and Hossain Md Golam and Toshiaki Sano and Shiro Noguchi and Katsuhiko Yoshimoto},
  journal={Clinical endocrinology},
  year={2006},
  volume={65 1},
  pages={9-16}
}
BACKGROUND A subset of familial isolated primary hyperparathyroidism (FIHP) is a variant of hyperparathyroidism-jaw tumour syndrome (HPT-JT). AIM/PATIENTS AND METHODS: We investigated the involvement of the HRPT2, MEN1 and CASR genes in 11 provisional FIHP families and two HPT-JT families. RESULTS Germline mutations of HRPT2 were found in two of the 11 FIHP families and one of the two HPT-JT families. One FIHP family with parathyroid carcinoma and atypical adenomas and another FIHP family… CONTINUE READING

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