Abstract Search

hrp0089fc5.1 | Thyroid | ESPE2018

Beta1-Tubulin Gene (TUBB1) Mutations Cause Thyroid Dysgenesis Associated to Abnormal Platelet Morphology and Hyper-Aggregation

Carre Aurore , Stoupa Athanasia , Adam Frederic , Kariyawasam Dulanjalee , Strassel Catherine , Gawade Sanjay , Szinnai Gabor , Kauskot Alexandre , Lasne Dominique , Janke Carsten , Natarajan Kathiresan , Schmitt Alain , Bole-Feysot Christine , Nitschke Patrick , Leger Juliane , Jabot-Hanin Fabienne , Tores Frederic , Michel Anita , Munnich Arnold , Besmond Claude , Scharfmann Raphael , Lanza Francois , Borgel Delphine , Polak Michel , Federation Parisienne pour le Depistage et la Prevention des Handicaps de l'Enfant FPDPHE Michel

Background: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, with an incidence of 1:3000 neonates, and one of the most frequent preventable causes of mental retardation worldwide. Most (65%) cases of primary permanent CH are due to thyroid dysgenesis (TD). However, a genetic cause is identified in less than 5% of CH due to DT.Methods: We performed WES (Whole Exome Sequencing) for siblings with childhood-onset TD and we analy...

0 shares

ESPE Abstracts

Beta1-Tubulin Gene (TUBB1) Mutations Cause Thyroid Dysgenesis Associated to Abnormal Platelet Morphology and Hyper-Aggregation

BiosciAbstracts