Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHβ
Author:
Publisher
S. Karger AG
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Reference19 articles.
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2. Saleh DS, Lawrence S, Geraghty MT, Gallego PH, McAssey K, Wherrett DK, et al. Prediction of congenital hypothyroidism based on initial screening thyroid-stimulating-hormone. BMC Pediatr. 2016 Feb;16(1):24.
3. Lania A, Persani L, Beck-Peccoz P. Central hypothyroidism. Pituitary. 2008;11(2):181–6.
4. Alvarez E, Cahoreau C, Combarnous Y. Comparative structure analyses of cystine knot-containing molecules with eight aminoacyl ring including glycoprotein hormones (GPH) alpha and beta subunits and GPH-related A2 (GPA2) and B5 (GPB5) molecules. Reprod Biol Endocrinol. 2009 Aug;7(1):90.
5. Watanabe Y, Ebrhim RS, Abdullah MA, Weiss RE. A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism. Thyroid. 2018 Aug;28(8):1068–70.
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1. Genetic Basis of Congenital Central Hypothyroidism in Children: Expanding the Mutational Spectrum of POU1F1 and ATP6V0A4;International Journal of General Medicine;2023-08
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