Associated Papers
Genetic and functional analysis of TUBB1 variants in congenital hypothyroidism.
Wang F et al.
Endokrynologia Polska, 2025
Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant.
Shah YB et al.
British Journal of Haematology, 2023
Approach to the Patient With Congenital Hypothyroidism.
Stoupa A et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Expanding the genetic spectrum of TUBB1-related thrombocytopenia.
Palma-Barqueros V et al.
Blood Advances, 2021
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.
Stoupa A et al.
Embo Molecular Medicine, 2018
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