Mutations in BOREALIN cause thyroid dysgenesis

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...

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Publié dans:Hum Mol Genet
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2017
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6311960/
https://ncbi.nlm.nih.gov/pubmed/28025328
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw419
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