A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of
Gordon syndrome
WNK1 missense variant
familial hyperkalemic hypertension
metabolic acidosis
pseudohypoaldosteronism type II
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
27 09 2023
27 09 2023
Historique:
received:
17
08
2023
revised:
07
09
2023
accepted:
26
09
2023
medline:
30
10
2023
pubmed:
28
10
2023
entrez:
28
10
2023
Statut:
epublish
Résumé
(1) Background: Gordon syndrome (GS) or familial hyperkalemic hypertension is caused by pathogenic variants in the genes
Identifiants
pubmed: 37895227
pii: genes14101878
doi: 10.3390/genes14101878
pmc: PMC10606608
pii:
doi:
Substances chimiques
Indapamide
F089I0511L
Thiazides
0
WNK1 protein, human
EC 2.7.11.1
WNK Lysine-Deficient Protein Kinase 1
EC 2.7.11.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
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