[CHARGE]

Bo Gao1, Shu Xiao1, Xiao-Wen Chen1

  • 1Center for Newborn Care, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.

概括

在一个婴儿身上发现了一种罕见的遗传疾病,即CHARGE综合征,该婴儿出现了严重的呼吸困难和独特的面部特征. 基因检测显示CHD7基因突变,证实了诊断,并指导了关键护理决策.

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