Associated Papers
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Musante L et al.
American Journal of Medical Genetics. Part A, 2022
35670379 (PubMed )
Supplement: AJMG-188-2652-s001.xlsx › Table_S2_details_TTC5_patients
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies.
Miyamoto S et al.
Journal of Human Genetics, 2021
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.
Rasheed A et al.
Journal of Medical Genetics, 2021
Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.
Fourel G et al.
Febs Letters, 2020
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