Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.

Yasmine El Allali,Coralie Hermetet,Justine Bacchetta,Cyril Amouroux,Anya Rothenbuhler,Valérie Porquet-Bordes, Marie-Alexandrine Champigny,Sabine Baron,Pascal Barat,Helene Bony-Trifunovic,Karine Bourdet,Kanetee Busiah, Maryse Cartigny-Maciejewski, Florence Compain,Regis Coutant,Jessica Amsellem-Jager,Marc De Kerdanet, Nathalie Magontier,Brigitte Mignot, Odile Richard,Sylvie Rossignol,Soskin Sylvie, Aurélie Berot,Naud-Saudreau Catherine,Jean-Pierre Salles,Agnès Linglart,Thomas Edouard,Anne Lienhardt-Roussie

European journal of endocrinology（2020）

引用 12|浏览54

暂无评分

摘要

Although far less common than in adults, PHPT can develop in children and is associated with significant morbidity. Consequently, this diagnosis should be considered in children with non-specific complaints and lead to monitoring of mineral homeostasis parameters. A genetic cause of PHPT can be identified in about half of these patients.

查看译文

关键词

primary hyperparathyroidism,paediatric population,molecular genetics

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要