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TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

Abstract 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)...

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المؤلفون الرئيسيون: Athanasia Stoupa, Frédéric Adam, Dulanjalee Kariyawasam, Catherine Strassel, Sanjay Gawade, Gabor Szinnai, Alexandre Kauskot, Dominique Lasne, Carsten Janke, Kathiresan Natarajan, Alain Schmitt, Christine Bole‐Feysot, Patrick Nitschke, Juliane Léger, Fabienne Jabot‐Hanin, Frédéric Tores, Anita Michel, Arnold Munnich, Claude Besmond, Raphaël Scharfmann, François Lanza, Delphine Borgel, Michel Polak, Aurore Carré
التنسيق: Artigo
اللغة:Inglês
منشور في: Springer Nature 2018-11-01
سلاسل:EMBO Molecular Medicine
الموضوعات:
congenital hypothyroidism
macroplatelets
mutations
thyroid dysgenesis
TUBB1
الوصول للمادة أونلاين:https://doi.org/10.15252/emmm.201809569
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