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| Heterogeneous Clinical Characteristics of Allan-Herndon-Dudley Syndrome with SLC16A2 Mutations |
| Ji Yeon Han, Seungbok Lee, Hyewon Woo, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jieun Choi, Ki Joong Kim, Jong-Hee Chae |
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Ann Child Neurol. 2021;29(4):149-158. Published online September 8, 2021 DOI: https://doi.org/10.26815/acn.2021.00423 |
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Heterogeneous Clinical Characteristics of Allan-Herndon-Dudley Syndrome with SLC16A2 Mutations Annals of Child Neurology. 2021;29(4):149-158  Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome Human Mutation. 2017;38(3):260-264 SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome Human Genome Variation. 2014;1(1): Novel SLC16A2 mutations in Chinese patients with Allan-Herndon-Dudley Syndrome Translational Science of Rare Diseases. 2018;3(2):97-103 Abstract #810607: Allan-Herndon-Dudley Syndrome, Mutation in SLC16a2 Gene: First Case Reported in Colombia Endocrine Practice. 2020;26:304-305 Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene Frontiers in Pediatrics. 2022;10: Novel A178P mutation in SLC16A2 in a patient with Allan‐Herndon‐Dudley syndrome Congenital Anomalies. 2017;58(4):143-144 Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene Journal of Child Neurology. 2014;30(10):1371-1374 A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report BMC Pediatrics. 2022;22(1): Allan–Herndon–Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH European Journal of Medical Genetics. 2010;53(6):392-395 |
