Associated Papers
A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1.
Peces R et al.
Genes, 2023
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Caswell RC et al.
Genome Medicine, 2022
Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations.
Anglani F et al.
Journal of Nephrology, 2022
The variety of genetic defects explains the phenotypic heterogeneity of Familial Hyperkalemic Hypertension.
Hureaux M et al.
Kidney International Reports, 2021
34622103 (PubMed )
Supplement: mmc1.pdf
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Hureaux M et al.
Kidney International, 2019
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