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Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1 -MLPA

21 Aug 2019

Abstract excerpt

At least 15 candidate genes have been implicated in hypoparathyroidism (HP). However, comprehensive screening of causative genes for HP is lacking. Here, we investigated the genotype spectrum in a large group of Chinese patients with childhood onset HP. A total of 173 patients with childhood onset HP were analyzed using targeted next-generation sequencing (NGS), including 15 candidate genes combined with...

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PMID: 31433868
DOI: 10.1002/jbmr.3854

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