TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

The genetic causes of congenital hypothyroidism due to thyroid dysgenesis (TD) remain largely unknown. We identified three novel TUBB1 gene mutations that co‐segregated with TD in three distinct families leading to 1.1% of TUBB1 mutations in TD study cohort. TUBB1 (Tubulin, Beta 1 Class VI) encodes...

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Detalhes bibliográficos
Publicado no:EMBO Mol Med
Main Authors: Stoupa, Athanasia, Adam, Frédéric, Kariyawasam, Dulanjalee, Strassel, Catherine, Gawade, Sanjay, Szinnai, Gabor, Kauskot, Alexandre, Lasne, Dominique, Janke, Carsten, Natarajan, Kathiresan, Schmitt, Alain, Bole‐Feysot, Christine, Nitschke, Patrick, Léger, Juliane, Jabot‐Hanin, Fabienne, Tores, Frédéric, Michel, Anita, Munnich, Arnold, Besmond, Claude, Scharfmann, Raphaël, Lanza, François, Borgel, Delphine, Polak, Michel, Carré, Aurore
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6284387/
https://ncbi.nlm.nih.gov/pubmed/30446499
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201809569
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