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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284387/
https://www.ncbi.nlm.nih.gov/pubmed/30446499
http://dx.doi.org/10.15252/emmm.201809569

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284387/
https://www.ncbi.nlm.nih.gov/pubmed/30446499
http://dx.doi.org/10.15252/emmm.201809569

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