Condition: Pseudohypoaldosteronism, Type I, Autosomal Dominant


rs121912563 in NR3C2 gene and Pseudohypoaldosteronism, Type I, Autosomal Dominant PMID 16972228 2007 Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.

PMID 11134129 2000 A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1.

PMID 16954160 2006 Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.

PMID 12788847 2003 Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.

PMID 27780983 2016 A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1.

PMID 19571553 2009 Clinical and molecular features of type 1 pseudohypoaldosteronism.

PMID 16757525 2006 Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene.