Associated Papers
Expanding the clinical and molecular spectrum of TBC1D32-related ciliopathy: case reports and literature Review.
Eiumtrakul W et al.
Journal of Human Genetics, 2025
Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.
García-Bohórquez B et al.
Human Genomics, 2025
40319332 (PubMed )
Supplement: 40246_2025_759_MOESM1_ESM.docx
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet B et al.
Jci Insight, 2023
Confirming TBC1D32-related ciliopathy in humans.
Alsahan N et al.
American Journal of Medical Genetics. Part A, 2020
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.
Hietamäki J et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
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