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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Udgivet i:Hum Mol Genet
Main Authors: 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
Sprog:Inglês
Udgivet: Oxford University Press 2017
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Articles
Online adgang: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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