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Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia

Wencui Wang, Rulai Han, Zuwei Yang, Sichang Zheng, Haorong Li, Zhihan Wan, Yan Qi, Shouyue Sun, Lei Ye, Guang Ning

2021The Journal of Steroid Biochemistry and Molecular Biology26 citationsDOI

Topics & Concepts

Congenital adrenal hyperplasiaCYP17A1GeneticsMultiplex ligation-dependent probe amplificationBiologyCandidate geneGenotypingGenotypeGeneMissense mutationSteroid 11-beta-hydroxylasePhenotypeExonEndocrinologySteroidHormoneSexual Differentiation and DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesAdrenal Hormones and Disorders
Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia | Litcius