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Delayed Myelination Pattern and an Abnormal Thyroid Profile Caused by a Novel Mutation in the SLC16A2 Gene

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References

  1. Shimojima K, Maruyama K, Kikuchi M, Imai A, Inoue K, Yamamoto T. Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. Intractable Rare Dis Res. 2016;5:214–7.

    Article  Google Scholar 

  2. Schwartz CE, Stevenson RE. The MCT8 thyroid hormone transporter and Allan--Herndon-Dudley syndrome. Best Pract Res Clin Endocrinol Metab. 2007;21:307–21.

    Article  CAS  Google Scholar 

  3. Remerand G, Boespflug-Tanguy O, Tonduti D, et al. Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations. Dev Med Child Neurol. 2019;61:1439–47.

    Article  Google Scholar 

  4. Dumitrescu AM, Liao X-H, Best TB, Brockmann K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet. 2004;74:168–75.

    Article  CAS  Google Scholar 

  5. Holden KR, Zuñiga OF, May MM, et al. X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. J Child Neurol. 2005;20:852–7.

    Article  Google Scholar 

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Correspondence to Renu Suthar.

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Sharawat, I.K., Suthar, R., Saini, A.G. et al. Delayed Myelination Pattern and an Abnormal Thyroid Profile Caused by a Novel Mutation in the SLC16A2 Gene. Indian J Pediatr 87, 764–765 (2020). https://doi.org/10.1007/s12098-020-03459-w

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  • DOI: https://doi.org/10.1007/s12098-020-03459-w

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