id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_nlc445pqs5hzxelntsxu5niqrq	Ashraf Kharrat	SAMHD1 Mutations Are Also Responsible for Aicardi–Goutières in the Cree Population	2017.0	3	.pdf	application/pdf	1747	177	51	mutations have been implicated in Cree encephalitis.2 A pathogenic variant affecting SAMHD1 has not been described in Cree children. We report a case of a Cree boy with phenotypic severe AGS and a The AGS phenotype due to the common mutation in the Cree population has traditionally been referred to as Cree AGS is caused by mutations in SAMHD1 (including missense and no reports of SAMHD1 mutations in Cree children. Several conditions are associated with AGS, including glaucoma, autoimmune diseases, familial chilblain cardiomyopathy, five patients with SAMHD1 mutations, all had both a cerebral If negative, an AGS panel (including SAMHD1) or Figure 1: A through C, age 4 months, T2W and T2 FLAIR axial images demonstrating temporal and frontal cysts; D through F, age 11 months, T2W and T2 FLAIR axial images demonstrating temporal and frontal cysts and abnormal myelination status; G, age 18 months, T1W axial image demonstrating left	./cache/work_nlc445pqs5hzxelntsxu5niqrq.pdf	./txt/work_nlc445pqs5hzxelntsxu5niqrq.txt