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甲状旁腺功能亢进-颌骨肿瘤综合征

Hyperparathyroidism-jaw tumour syndrome.

作者信息

Chen J D, Morrison C, Zhang C, Kahnoski K, Carpten J D, Teh B T

机构信息

Laboratory of Cancer Genetics, Van Andel Research Institute, Grand Rapids, MI 49503, USA.

出版信息

J Intern Med. 2003 Jun;253(6):634-42. doi: 10.1046/j.1365-2796.2003.01168.x.

Abstract

Amongst hyperparathyroidism-related syndromes, hyperparathyroidism-jaw tumour syndrome is one of the least common and relatively unknown but its clinical and genetic aspects are not less interesting or important. With the recent identification of its genes, we can now better characterize the disease, both clinically and genetically, which will certainly impact the field of endocrinology and oncology. In this article, we review the clinico-pathological features and genetic basis of this syndrome with the hope that it will create awareness and interest in this disease amongst clinicians and basic scientists.

摘要

在与甲状旁腺功能亢进相关的综合征中,甲状旁腺功能亢进-颌骨肿瘤综合征是最不常见且相对鲜为人知的综合征之一,但其临床和遗传学方面同样有趣且重要。随着其相关基因的近期发现,我们现在能够在临床和遗传学上更好地对该疾病进行特征描述,这必将对内分泌学和肿瘤学领域产生影响。在本文中,我们回顾了该综合征的临床病理特征和遗传基础,希望能提高临床医生和基础科学家对这种疾病的认识和兴趣。

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