A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient.
Takuya TakeichiC KatayamaT TanakaY OkunoN MurakamiMichihiro KonoK SugiuraY AoyamaM AkiyamaPublished in: The British journal of dermatology (2017)