Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND.
Brum
Sandra
S
Rueff
José
J
Santos
João R
JR
Calado
Joaquim
J
D000328:Adult; D017668:Age of Onset; D000483:Alleles; D001477:Bartter Syndrome / Q000150:complications* / Q000235:genetics*; D018118:Chloride Channels; D003638:Deafness / Q000150:complications; D005260:Female; D005919:Glomerular Filtration Rate; D006720:Homozygote; D006801:Humans; D007008:Hypokalemia / Q000150:complications; D007668:Kidney / Q000473:pathology; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
C440005:BSND protein, human; D018118:Chloride Channels; D008565:Membrane Proteins