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Updated: Jul 16, 2026

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由KMT2D突变引起的新生儿卡布基综合征:一个病例报告

Zhang Li¹, Zou Ning

¹The Second Affiliated Hospital of Dalian Medical University, Dalian City, Liaoning Province, China.

|December 20, 2023

概括

卡布基综合征 (KS) 是一种遗传性疾病. 在患有新生儿低血糖症的KS患者中发现了一种新的KMT2D基因突变,扩大了这种疾病的已知谱.

科学领域:

遗传学遗传学是一个
分子生物学分子生物学
临床医学临床医学

背景情况:

卡布基综合征 (KS) 是一种自体主导的遗传性疾病,影响多个器官系统.
基因突变,特别是KMT2D和KDM6A,是导致KS的主要原因.
了解KS的遗传基础对于诊断和管理至关重要.

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