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Novel ANO5 mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia.

Binghui Zeng,Junkun Liao,Hanqing Zhang,Sha Fu,Weixiong Chen,Guokai Pan,Qunxing Li,Weiliang Chen,Soldano Ferrone,Binghao Wu,Sheng Sun, Jiali Hu,Michael Ho-Young Ahn,Zhaoyu Lin,Dongsheng Yu,Zhanpeng Ou,Xinhui Wang, Fengbo Mo,Nasi Huang,James A Hamilton,Jinsong Li,Song Fan

HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK（2019）

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关键词
ANO5,cherubism,gnathodiaphyseal dysplasia,SH3BP2,whole-genome sequencing
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