A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report

Mutations in the tubulin-specific chaperon D (TBCD) gene, involved in the assembly and disassembly of the α/β-tubulin heterodimers, have been reported in early-onset progressive neurodevelopment regression, with epilepsy and mental retardation. We describe a rare homozygous variant in TBCD, namely c...

Descripción completa

Detalles Bibliográficos
Autores principales: Caputo, Maria, Martinelli, Ilaria, Fini, Nicola, Gianferrari, Giulia, Simonini, Cecilia, Trovato, Rosanna, Santorelli, Filippo Maria, Tessa, Alessandra, Mandrioli, Jessica, Zucchi, Elisabetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10418765/
https://www.ncbi.nlm.nih.gov/pubmed/37569761
http://dx.doi.org/10.3390/ijms241512386

Ejemplares similares

Ejemplares similares