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

• Main Authors: Yue Shen (Author), Hao Wang (Author), Zhimin Liu (Author), Minna Luo (Author), Siyu Ma (Author), Chao Lu (Author), Zongfu Cao (Author), Yufei Yu (Author), Ruikun Cai (Author), Cuixia Chen (Author), Qian Li (Author), Huafang Gao (Author), Yun Peng (Author), Baoping Xu (Author), Xu Ma (Author)
• Format: Book
• Published: BMC, 2020-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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. Case presentation A two-year-old boy was diagnosed with Joubert syndr...