Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics
Year: 2020
Type: article
Study design: Case Report
Source: Pancreatology
Authors: Shu Liu, Zhiqing Wang, Jianhui Jiang, Xianqiong Luo, Qingshan Hong, Ye Zhang, Haimei OuYang, Sisi Wei, Jinqun Liang, Nuan Chen, Weihong Zeng
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: closed
Awards: G2368051295, G3991573236
OpenAlex ID: W3000485299