Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1
HDR syndrome: Large cohort and systematic review.
Rive Le Gouard N et al.
Clinical Genetics, 2024
Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome.
Dinoi E et al.
Journal of Endocrinological Investigation, 2024
A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review.
Tao Y et al.
Frontiers in Genetics, 2023
37693317 (PubMed )
Supplement: Table1.xlsx › Sheet1
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Gibson KM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome.
Wang L et al.
Chinese Medical Journal, 2017
[Evaluation of deaf-mute patients with sensitive deafness gene screening in Shandong province].
Ji YB et al.
Zhonghua Yi Xue Za Zhi, 2009
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