Article
[Abernethy malformation associated with COACH syndrome in a patient with TMEM67 mutation: a case report].
Zhonghua nei ke za zhi - 1 Sept 2022
Zhu B, Tian H, Song F J, Li D Z, Liu S H, Dong J H, Lyu S, You S L
Abstract excerpt
COACH 综合征与Abernethy畸形的关联全球鲜见报道。本文报道一例COACH 综合征联合Abernethy畸形的22岁男性患者，影像学提示门静脉纤细，胃镜提示食管静脉曲张，经颈静脉肝穿刺病理提示先天性肝纤维化伴Caroli病，脑部磁共振提示中脑水平“磨牙征”，基因检测报告提示TMEM67基因复合杂合变异。通过文献回顾，加强了医师对这些罕见疾病的认识。.
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