Associated Papers
A Novel Homozygous TBC1D2B Variant Disrupts Functional Domains and Suggests Impaired Rab-GTPase Regulation in Neurodevelopmental Disorder.
Ozturk M et al.
Developmental Neurobiology, 2025
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.
Harms FL et al.
European Journal of Human Genetics : Ejhg, 2024
38374468 (PubMed )
Supplement: 41431_2024_1563_MOESM1_ESM.docx
Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration.
Correia-Costa GR et al.
Clinical Genetics, 2022
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