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)...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2018-12-01
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Series: | EMBO Molecular Medicine |
Subjects: | |
Online Access: | https://doi.org/10.15252/emmm.201809569 |