Clinical heterogeneity among a three-generation Japanese family with D18N TREX1 mutation for Aicardi-Goutières syndrome / familial chilblain lupus

Gelijkaardige items

• Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome
  door: Rice, Gillian, et al.
  Gepubliceerd in: (2007)
• Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndrome
  door: Yi, Cuili, et al.
  Gepubliceerd in: (2020)
• Phenotypic variation in familial chilblain lupus (FCL) and Aicardi-Goutières syndrome (AGS) associated with TREX1 mutation in 4 family members
  door: Glanville, James, et al.
  Gepubliceerd in: (2011)
• Dominant Mutations of the TREX1 Exonuclease Gene in Lupus and Aicardi-Goutières Syndrome
  door: Fye, Jason M., et al.
  Gepubliceerd in: (2011)
• Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations
  door: Oda, Hirotsugu, et al.
  Gepubliceerd in: (2014)