[Aicardi-Goutières syndrome with atypical presentation: RNASEH2B gene mutation in an infant without microcephaly or intracranial calcifications (a case report)]

[非典型表现的艾卡迪-古蒂埃综合征：无小头畸形或颅内钙化的婴儿的RNASEH2B基因突变（病例报告）]