Five Novel Variants of KMT2D/KDM6A Found in Seven Chinese Patients with Kabuki syndrome and a literature review of 39 patients reported in China

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作者
Chen, Ruimin [1 ]
Gong, Chunxiu [2 ]
Shangguan, Huakun [1 ]
Su, Chang [2 ]
Ouyang, Qian [1 ]
Cao, Bingyan [2 ]
Wang, Jian [3 ]
机构
[1] Fujian Med Univ, Teaching Hosp, Fuzhou Childrens Hosp Fujian Prov, Fuzhou, Fujian, Peoples R China
[2] Capital Med Univ, Affiliated Beijing Children Hosp, Beijing, Peoples R China
[3] Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Cent, Shanghai, Peoples R China
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中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P2-177
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页码:443 / 443
页数:1
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