Author:
Masnada Silvia,Sarret Catherine,Antonello Clara Eleonora,Fadilah Ala,Krude Heiko,Mura Eleonora,Mordekar Santosh,Nicita Francesco,Olivotto Sara,Orcesi Simona,Porta Francesco,Remerand Ganaelle,Siri Barbara,Wilpert Nina-Maria,Amir-Yazdani Pouneh,Bertini Enrico,Schuelke Markus,Bernard Geneviève,Boespflug-Tanguy Odile,Tonduti Davide
Funder
Fonds de Recherche du Québec - Santé
Royal Children's Hospital Foundation
Canadian Institutes of Health Research
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference26 articles.
1. Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings;Fu;Curr. Opin. Endocrinol. Diabetes Obes.,2013
2. E.C. Friesema et al., "Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation," (in eng), Lancet, vol. 364, no. 9443, pp. 1435–7, Oct 16–22 2004, S0140673604172267 [pii] https://doi.org/10.1016/S0140-6736(04)17226-7.
3. C. Sarret, I. Oliver Petit, and D. Tonduti, "Allan-Herndon-Dudley Syndrome," In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. Surce: GeneReviews™ [Internet]. doi: NBK26373.
4. G. Remerand et al., "Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations," (in eng), Dev Med Child Neurol, vol. 61, no. 12, pp. 1439–1447, 12 2019, https://doi.org/10.1111/dmcn.14332.
5. S. Groeneweg et al., "Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study," (in eng), Lancet Diabetes Endocrinol, vol. 8, no. 7, pp. 594–605, 07 2020, https://doi.org/10.1016/S2213-8587(20)30153-4.
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