Novel Compound Heterozygous Variants in <i>TBCD</i> Gene Associated with Infantile Neurodegenerative Encephalopathy

• Main Authors: Chih-Ling Chen (Author), Chien-Nan Lee (Author), Yin-Hsiu Chien (Author), Wuh-Liang Hwu (Author), Tung-Ming Chang (Author), Ni-Chung Lee (Author)
• Format: Book
• Published: MDPI AG, 2021-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Mutations in tubulin-specific chaperon D (TBCD), the gene encoding one of the co-chaperons required for the assembly and disassembly of the α/β-tubulin heterodimers, have been reported to cause perturbed microtubule dynamics, resulting in debilitating early-onset progressive neurodegenerative disord...