Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics
Titel:
Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics
Auteur:
Liu, Shu Wang, Zhiqing Jiang, Jianhui Luo, Xianqiong Hong, Qingshan Zhang, Ye OuYang, Haimei Wei, Sisi Liang, Jinqun Chen, Nuan Zeng, Weihong