Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome

Eitemau Tebyg

• A new mutation in the PAX2 gene in a Papillorenal Syndrome patient
  gan: Rachwani Anil, Rahul, et al.
  Cyhoeddwyd: (2019)
• Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON
  gan: Galvez-Ruiz, Alberto, et al.
  Cyhoeddwyd: (2017)
• Papillorenal Syndrome-Causing Missense Mutations in PAX2/Pax2 Result in Hypomorphic Alleles in Mouse and Human
  gan: Alur, Ramakrishna P., et al.
  Cyhoeddwyd: (2010)
• Clinical presentation of multiple cerebral emboli and central retinal artery occlusion (CRAO) as signs of cardiac myxoma
  gan: Galvez-Ruiz, Alberto, et al.
  Cyhoeddwyd: (2018)
• A clinical case of Zellweger syndrome in a patient with a previous history of ocular medulloepithelioma
  gan: Galvez-Ruiz, Alberto, et al.
  Cyhoeddwyd: (2018)