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[Analysis of clinical diagnosis, treatment, and pathogenic variants of hypoparathyroidism- sensorineural deafness-renal dysplasia (HDR) syndrome].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery - 7 Feb 2026

Zuo B, He W L, Zhang M L, Xu G E, Lu W, Sun S P

Abstract excerpt

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 basis for refining its clinical diagnostic criteria and genetic counseling. Methods: Three pedigrees presenting with hypoparathyroidism, sensorineural...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41673963
DOI: 10.3760/cma.j.cn115330-20250423-00246

Genes

GATA3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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