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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Pubblicato in:EMBO Mol Med
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2018
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Research Articles
Accesso online: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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