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Article

Activating calcium-sensing receptor gene variants in China: a case report of hypocalcaemia and literature review.

Journal of pediatric endocrinology & metabolism : JPEM - 25 May 2023

Guo Shuzhen, Li Xiaolin, Shan Xiaoou

Abstract excerpt

OBJECTIVES: Autosomal dominant hypocalcaemia 1 (ADH1) is a rare autosomal dominant genetic disease, due to the activating mutations of the calcium-sensing receptor (CASR) gene. The current paper presents a severe case of ADH1 with intellectual backwardness, and systematically reviews the reported 17 ADH1 patients in China. CASE PRESENTATION: A 7 years old boy with recurrent seizures over 1 year was admitted at...

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Calcium
Child
China
Hypercalciuria
Hypocalcemia
Hypoparathyroidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, Calcium-Sensing

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PMID: 36935580
DOI: 10.1515/jpem-2022-0623

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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