Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome

by Yongbo Yu, Wei Liu, Min Chen, Yang Yang, Yeran Yang, Enyu Hong, Jie Lu, Jun Zheng, Xin Ni, Yongli Guo, Jie Zhang
Published 2020-05-01

Two Compound Heterozygous Were Identified in Gene in Two Chinese Families With Enlarged Vestibular Aqueduct

by Yongbo Yu, Yang Yang, Jie Lu, Yaqiong Jin, Yeran Yang, Enyu Hong, Jin Shi, Feng Chen, Shujing Han, Ping Chu, Yongli Guo, Xin Ni
Published 2019-02-01

A Novel Germline Compound Heterozygous Mutation of BRCA2 Gene Associated With Familial Peripheral Neuroblastic Tumors in Two Siblings

by Yeran Yang, Yeran Yang, Yeran Yang, Jiwei Chen, Hong Qin, Yaqiong Jin, Yaqiong Jin, Yaqiong Jin, Li Zhang, Shen Yang, Huanmin Wang, Libing Fu, Enyu Hong, Enyu Hong, Yongbo Yu, Yongbo Yu, Yongbo Yu, Jie Lu, Jie Lu, Jie Lu, Yan Chang, Yan Chang, Yan Chang, Xin Ni, Xin Ni, Xin Ni, Min Xu, Tieliu Shi, Yongli Guo, Yongli Guo, Yongli Guo
Published 2021-07-01