A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome: Case report

Documenti analoghi

• Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity
  di: Srivastava, Shalabh, et al.
  Pubblicazione: (2013)
• Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review
  di: Elfert, Khaled A., et al.
  Pubblicazione: (2020)
• Compound heterozygous PNPLA6 mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia
  di: Deik, A., et al.
  Pubblicazione: (2014)
• Late-onset Bartter syndrome type II
  di: Gollasch, Benjamin, et al.
  Pubblicazione: (2017)
• Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndrome
  di: Polyak, Margarita E, et al.
  Pubblicazione: (2020)