Novel compound heterozygous mutations in TELO2 in an infant with You-Hoover-Fong syndrome: A case report and literature review

por Zhao, Yong, Han, Yu, Li, Nuo, Fu, Wenjie, Luo, Guanjun, Tan, Yuan, Qian, Xuguang
Publicado 2023

Whole Exome Sequencing Identified Novel ARMC9 Variations in Two Cases With Joubert Syndrome

por Wang, Hao, Luo, Guanjun, Hu, Wensheng, Mei, Jin, Shen, Yue, Wang, Min, Tan, Yuan, Yang, Yang, Lu, Chao, Zhao, Yong, Qi, Ming
Publicado 2022