Associated Papers
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.
Aynekin B et al.
Neurogenetics, 2025
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Martínez-Rubio D et al.
International Journal of Molecular Sciences, 2023
A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report.
Caputo M et al.
International Journal of Molecular Sciences, 2023
Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy.
Chen CL et al.
Children (basel, Switzerland), 2021
Developmental Regression and Epilepsy of Infancy with Migrating Focal Seizures Caused by TBCD Mutation: A Case Report and Review of the Literature.
Zhang Y et al.
Neuropediatrics, 2020
A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course.
Grønborg S et al.
European Journal of Human Genetics : Ejhg, 2018
[Exome sequencing for syndrome diagnostics].
Østergaard E et al.
Ugeskrift for Laeger, 2017
Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.
Quitmann CM et al.
Child Neurology Open, 0
Select a paper to view details