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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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Автори: 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
Формат: Artigo
Мова:Inglês
Опубліковано: Springer Nature 2018-11-01
Серія:EMBO Molecular Medicine
Предмети:
congenital hypothyroidism
macroplatelets
mutations
thyroid dysgenesis
TUBB1
Онлайн доступ:https://doi.org/10.15252/emmm.201809569
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