Article
Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations.
Journal of nephrology - 1 Apr 2022
Anglani Franca, Salviati Leonardo, Cassina Matteo, Rigato Matteo, Gobbi Laura, Calò Lorenzo A
Abstract excerpt
Gordon's syndrome, known also as Pseudohypoaldosteronism type II is a rare inherited dominant form of low-renin hypertension associated with hyperkalemia and metabolic acidosis. Four genes related to the regulation of the NaCl co-symporter NCC have been discovered associated to Gordon phenotypes: WINK 1 and WINK4, which, along with WNK2 and WNK3, encode a family of WNK-kinases, and KLHL3 and CUL3 encoding...
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