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...

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Publicat a:Br J Dermatol
Autors principals: 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
Idioma:Inglês
Publicat: 2015
Matèries:
Article
Accés en línia: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
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