Associated Papers
Successful Living Kidney Donation from Heterozygous Carrier Parents to Siblings with Coenzyme Q8B Nephropathy: Two Case Series.
Morita K et al.
Nephron, 2025
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.
Diderich KEM et al.
European Journal of Medical Genetics, 2023
Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review.
Zhai SB et al.
Bmc Nephrology, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
31847883 (PubMed )
Supplement: 13073_2019_702_MOESM1_ESM.xlsx › Table_S3A
Early-onset of ADCK4 glomerulopathy with renal failure: a case report.
Lolin K et al.
Bmc Medical Genetics, 2017
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