[Analysis of clinical diagnosis, treatment, and pathogenic variants of hypoparathyroidism- sensorineural deafness-renal dysplasia (HDR) syndrome]
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Objective: This study aimed to identify pathogenic variants in patients with hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome through whole-exome sequencing (WES), to elucidate the genotype-phenotype correlations, and to provide a... ...
