Article
Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism.
Hormone research in paediatrics - 1 Jan 2020
Choukair Daniela, Eberle Birgit, Vick Philipp, Hermanns Pia, Weiss Birgit, Paramasivam Nagarajan, Schlesner Matthias, Lornsen Katharina, Roeth Ralph, Klutmann Carina, Kreis Jennifer, Hoffmann Georg F, Pohlenz Joachim, Rappold Gudrun A, Bettendorf Markus
Abstract excerpt
BACKGROUND: Congenital primary hypothyroidism (CH) is the most common endocrine disorder in neonates. METHODS: To identify novel genes, we performed whole exome sequencing (WES) in 6 patients with CH due to thyroid dysgenesis (TD). The potential effects of the most relevant variants were analyzed using in silico prediction tools. The most promising candidate gene, transient receptor potential channel 4-associated...
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