Article
Mutations in BOREALIN cause thyroid dysgenesis.
Human molecular genetics - 1 Feb 2017
Carré Aurore, Stoupa Athanasia, Kariyawasam Dulanjalee, Gueriouz Manelle, Ramond Cyrille, Monus Taylor, Léger Juliane, Gaujoux Sébastien, Sebag Frédéric, Glaser Nicolas, Zenaty Delphine, Nitschke Patrick, Bole-Feysot Christine, Hubert Laurence, Lyonnet Stanislas, Scharfmann Raphaël, Munnich Arnold, Besmond Claude, Taylor William, Polak Michel
Abstract excerpt
Congenital hypothyroidism is the most common neonatal endocrine disorder and is primarily caused by developmental abnormalities otherwise known as thyroid dysgenesis (TD). We performed whole exome sequencing (WES) in a consanguineous family with TD and subsequently sequenced a cohort of 134 probands with TD to identify genetic factors predisposing to the disease. We identified the novel missense mutations...
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