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Results 1 - 6 of 6 for Bartter syndrome antenatal type 1
  1. ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1 BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 BARTTER ...
  2. ... life-threatening form of the disorder known as Bartter syndrome type IV or antenatal Bartter syndrome with sensorineural deafness. In addition to salt ...
  3. ... abnormalities in the inner ear, which is why Bartter syndrome type IV is also known as antenatal Bartter syndrome with sensorineural deafness.BSND gene mutations ...
  4. ... a life-threatening form of the disorder called Bartter syndrome type IV. This condition is also known as antenatal Bartter syndrome with sensorineural deafness because affected individuals ...
  5. The SLC12A1 gene provides instructions for making a protein known as NKCC2. This protein is a Na+/K+/2Cl- cotransporter, which means that it moves charged ...
  6. ... PubMed POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1; KCNJ1 NCBI Gene ClinVar Derst C, Konrad M, Kockerling A, Karolyi L, Deschenes G, Daut J, Karschin A, Seyberth HW. Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. Biochem ...