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Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndrome

BACKGROUND: Familial chilblain lupus (FCL) is a rare, chronic form of cutaneous lupus erythematosus, which is characterized by painful bluish-red inflammatory cutaneous lesions in acral locations. Mutations in TREX1, SAMHD1 and STING have been described in FCL patients. Less than 10 TREX1 mutation p...

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Bibliographic Details
Published in:Pediatr Rheumatol Online J
Main Authors: Yi, Cuili, Li, Qiyuan, Xiao, Jihong
Format: Artigo
Language:Inglês
Published: BioMed Central 2020
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7158086/
https://ncbi.nlm.nih.gov/pubmed/32293470
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12969-020-00423-y
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