{Reference Type}: Case Reports
{Title}: [Abernethy malformation associated with COACH syndrome in a patient with TMEM67 mutation: a case report].
{Author}: Zhu B;Tian H;Song FJ;Li DZ;Liu SH;Dong JH;Lyu S;You SL;Zhu B;Tian H;Song FJ;Li DZ;Liu SH;Dong JH;Lyu S;You SL;
{Journal}: Zhonghua Nei Ke Za Zhi
{Volume}: 61
{Issue}: 9
{Year}: Sep 2022 1
暂无{DOI}: 10.3760/cma.j.cn112138-20220107-00019
{Abstract}: 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。.