Extending the Mutation Spectrum for Galloway–Mowat Syndrome to Include Homozygous Missense Mutations in the WDR73 Gene

Lignende værker

• Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73
  af: Jinks, Robert N., et al.
  Udgivet: (2015)
• Disruption of pathways regulated by Integrator complex in Galloway–Mowat syndrome due to WDR73 mutations
  af: Tilley, F. C., et al.
  Udgivet: (2021)
• Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome
  af: Colin, Estelle, et al.
  Udgivet: (2014)
• Mutations in WDR4 as a new cause of Galloway-Mowat syndrome
  af: Braun, Daniela A., et al.
  Udgivet: (2018)
• Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype
  af: Lin, Pei-Yi, et al.
  Udgivet: (2018)