Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome

Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes.

Source: BMC Medical Genetics - October 1, 2020 Category: Genetics & Stem Cells Authors: Yue Shen, Hao Wang, Zhimin Liu, Minna Luo, Siyu Ma, Chao Lu, Zongfu Cao, Yufei Yu, Ruikun Cai, Cuixia Chen, Qian Li, Huafang Gao, Yun Peng, Baoping Xu and Xu Ma Tags: Case report Source Type: research