Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report.
Caputo M et al.
International Journal of Molecular Sciences, 2023
[MOH SCREENING FOR TBCD IN COCHIN JEWS: COLLABORATION BETWEEN MEDICAL, RESEARCH AND COMMUNITY MEMBERS IN ACHIEVING PUBLIC HEALTH GOALS].
Grinshpun-Cohen J et al.
Harefuah, 2023
Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy.
Chen CL et al.
Children (basel, Switzerland), 2021
Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.
Al-Bakheet A et al.
Clinical Genetics, 2021
Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.
Stephen J et al.
Bmc Medical Genetics, 2018
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.
Pode-Shakked B et al.
Clinical Genetics, 2017
Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.
Edvardson S et al.
Human Molecular Genetics, 2016
Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.
Quitmann CM et al.
Child Neurology Open, 0
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