Dominant PAX2 mutations may cause steroid resistant neprotic syndrome and FSGS in children

Lignende værker

• Exome Sequencing Frequently Reveals the Cause of Early-Onset Chronic Kidney Disease
  af: Vivante, Asaf, et al.
  Udgivet: (2016)
• Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature
  af: Pode-Shakked, Ben, et al.
  Udgivet: (2019)
• Exome sequencing in Jewish and Arabic patients with rhabdomyolysis reveals single-gene etiology in 43% of cases
  af: Vivante, Asaf, et al.
  Udgivet: (2017)
• Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome
  af: Staretz-Chacham, Orna, et al.
  Udgivet: (2019)
• Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
  af: Hwang, Daw-Yang, et al.
  Udgivet: (2014)