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在ANKRD11中发现了一种新型的移变异:KBG综合征的病例报告

Qing Shao1, Qiang Jiang1, Yuqi Luo1

  • 1Department of Endocrinology and Metabolic Diseases, Shandong First University Affiliated Central Hospital, Jinan, China.

Frontiers in genetics
|January 20, 2025
PubMed
概括

一个罕见的遗传疾病KBG综合征,在一个18岁的男性中被诊断出是由于一种新的ANKRD11基因突变. 这一发现扩大了对KBG综合征的理解.

关键词:
在 ANKRD1111 里面.在KBG综合征中,在RRAS2中使用RRAS2.框架转移变化的变化.午安氏综合征 (noonan's syndrome) 是一种疾病.

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