[Analysis of clinical diagnosis, treatment, and pathogenic variants of hypoparathyroidism- sensorineural deafness-renal dysplasia (HDR) syndrome].
Abstract
variants for the first time, which expands the molecular diagnostic spectrum of HDR syndrome and provides molecular evidence for family genetic counseling and prenatal diagnosis. The combined use of WES and Sanger sequencing effectively improves the diagnostic yield for hereditary hearing loss, particularly in syndromic forms. Furthermore, a phenotype-driven targeted analysis strategy holds significant value in enhancing the detection rate of causative genes.
Fields of Study & Subjects
Genomics and Rare Diseases
Hearing
Cochlea
Tinnitus
Genetics
Parathyroid Disorders and Treatments
Publication details
- Journal / source
- PubMed
- Volume
- 61
- Issue
- 2
- Pages
- 110–118
- Publication date
- 7 February 2026
- Language
- ZH