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罕見病是一類慢性嚴重性疾病，半數罕見病患者在出生時或者兒童期即可發病，病情通常進展迅速，死亡率高。目前對罕見病認知嚴重不足，易誤診漏診，部分罕見病無葯可醫，給患者診治帶來巨大阻礙。推進兒童罕見病診療研究的發展，是兒童健康事業發展的重要內容之一，對於保障和改善民生、提高全民健康素質、實現中華民族偉大復興的夢具有重要意義。為此，Science China Life Sciences（《科學：生命科學》英文版）特邀相關領域專家撰文，共同聚焦兒童罕見病，深入思考、探討兒童罕見病的發生髮展、診斷、治療等疑難問題，為攻破兒童罕見病進行有益的探索。文章集成「Frontiers in rare diseases」專刊（「兒童罕見病專刊」），於2017年7月正式出版。 篇目如下，敬請關注EDITORIALThe challenge and promise of rare disease diagnosis in ChinaREVIEWTowards efficiency in rare disease research: what is distinctive and important?RESEARCH PAPER►Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome►AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade0–3)►Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations►DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma►Detection of FOXO1 break-apart status byfluorescence in situ hybridization in atypical alveolar rhabdomyosarcoma►Correlation between BRAFV600E mutation and clinicopathological features in pediatric papillary thyroid carcinoma►Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome►The clinical and genetic characteristics in children with mitochondrial disease in China►Gene mutations and clinical phenotypes in Chinese children with Blau syndrome►Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complexLETTER TO THE EDITOR►Berry syndrome: a rare cardiac malformation with extra-cardiac findings►Detection of mycobacterial and viral DNA in Kikuchi-Fujimoto disease: an analysis of 153 Chinese pediatric cases►Analysis of diagnosis and treatment of lipoblastomatosis 點擊下方「閱讀原文」 查看詳細內容