Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy

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...

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Detalles Bibliográficos
Autores principales: Chen, Chih-Ling, Lee, Chien-Nan, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Chang, Tung-Ming, Lee, Ni-Chung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8699832/
https://www.ncbi.nlm.nih.gov/pubmed/34943336
http://dx.doi.org/10.3390/children8121140

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8699832/
https://www.ncbi.nlm.nih.gov/pubmed/34943336
http://dx.doi.org/10.3390/children8121140

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