Phenotypic variation in familial chilblain lupus (FCL) and Aicardi-Goutières syndrome (AGS) associated with TREX1 mutation in 4 family members

Míreanna Comhchosúla

• Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome
  le: Rice, Gillian, et al.
  Foilsithe: (2007)
• Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndrome
  le: Yi, Cuili, et al.
  Foilsithe: (2020)
• Clinical heterogeneity among a three-generation Japanese family with D18N TREX1 mutation for Aicardi-Goutières syndrome / familial chilblain lupus
  le: Abe, J, et al.
  Foilsithe: (2011)
• Aicardi-Goutières syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity
  le: Crow, Yanick J., et al.
  Foilsithe: (2009)
• Neuromyelitis optica in a child with Aicardi-GoutiÈres syndrome
  le: Hacohen, Yael, et al.
  Foilsithe: (2015)