Abstract
1例6岁确诊糖尿病的男童，同时存在多发先天性消化系统畸形（环状胰腺、十二指肠闭锁，梅克尔憩室，空肠重复畸形、胆囊缺如、胃黏膜异位），基因检测结果为2个未报道的RFX6基因位点的复合杂合变异c.2502_2503delCA（p.Tyr834X）和c.816C>G（p.Cys272Trp），确诊为Mitchell-Riley综合征。.
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Schedule a callMore From: Zhonghua er ke za zhi = Chinese journal of pediatrics
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