A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome

• Main Authors: Yue Shen (Author), Chao Lu (Author), Tingting Cheng (Author), Zongfu Cao (Author), Cuixia Chen (Author), Xu Ma (Author), Huafang Gao (Author), Minna Luo (Author)
• Format: Book
• Published: BMC, 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background KIAA0586, also known as Talpid3, plays critical roles in primary cilia formation and hedgehog signaling in humans. Variants in KIAA0586 could cause some different ciliopathies, including Joubert syndrome (JBTS), which is a clinically and genetically heterogeneous group of autosom...