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Article

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

Clinical endocrinology - 1 Jul 2006

Mizusawa Noriko, Uchino Shinya, Iwata Takeo, Tsuyuguchi Masaru, Suzuki Yasuyo, Mizukoshi Tsunenori, Yamashita Yoshio, Sakurai Akihiro, Suzuki Shinichi, Beniko Mutsuo, Tahara Hideki, Fujisawa Masato, Kamata Nobuyuki, Fujisawa Kenji, Yashiro Tohru, Nagao Daisuke, Golam Hossain Md, Sano Toshiaki, Noguchi Shiro, Yoshimoto Katsuhiko

Abstract excerpt

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...

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Source

Identifiers

PMID: 16817812
DOI: 10.1111/j.1365-2265.2006.02534.x

Genes

CASR
MEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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