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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha: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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