Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi–Goutières and Singleton–Merten syndromes

Cutaneous lesions described as chilblain lupus occur in the context of familial chilblain lupus or Aicardi–Goutières syndrome. To date, seven genes related to Aicardi–Goutières syndrome have been described. The most recently described encodes the cytosolic double-stranded RNA receptor IFIH1 (also kn...

Full description

Saved in:
Bibliographic Details
Published in:Br J Dermatol
Main Authors: Bursztejn, A.-C., Briggs, T.A., del Toro Duany, Y., Anderson, B.H., O’Sullivan, J., Williams, S.G., Bodemer, C., Fraitag, S., Gebhard, F., Leheup, B., Lemelle, I., Oojageer, A., Raffo, E., Schmitt, E., Rice, G.I., Hur, S., Crow, Y.J.
Format: Artigo
Language:Inglês
Published: 2015
Subjects:
Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4745891/
https://ncbi.nlm.nih.gov/pubmed/26284909
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bjd.14073
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items