A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report
A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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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.881G>A/p.Arg294Gln, in a young woman with a pheno...
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Full title
A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10418765
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10418765
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ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms241512386
