Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.
Bursztejn AC, Briggs TA, del Toro Duany Y, Anderson BH, O'Sullivan J, Williams SG, Bodemer C, Fraitag S, Gebhard F, Leheup B, Lemelle I, Oojageer A, Raffo E, Schmitt E, Rice GI, Hur S, Crow YJ.
Bursztejn AC, et al.
Br J Dermatol. 2015 Dec;173(6):1505-13. doi: 10.1111/bjd.14073. Epub 2015 Oct 29.
Br J Dermatol. 2015.
PMID: 26284909
Free PMC article.