Thyroid hormone transporter defect: Allan Herndon Dudley Syndrome, masquerading as dyskinetic cerebral palsy
Author:
Publisher
Medknow
Subject
General Neuroscience,Pediatrics, Perinatology and Child Health
Reference7 articles.
1. Clinical and molecular characteristics of SLC16A2 (MCT8) mutations in three families with the Allan-Herndon-Dudley syndrome?;Novara;Hum Mutat,2017
2. Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S A novel syndrome combining thyroid and neurological abnormalities is associated with mutation in a monocarboxylate transported gene. Am J Hum Genet 2004;74:168-75. doi:10.1086/380999.
3. Biebermann H, Ambrugger P, Tarnow P, Moers AV, Schweizer U, Grueters A Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in thyroid hormone specific transporter MCT8. Eur J Endocrinol 2005;153:359-66. doi:10.1530/eje.1.01980.
4. Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations?;Remerand;Dev Med Child Neurol,2019
5. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene?;Schwartz;Am J Hum Genet,2005
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review;Frontiers in Pediatrics;2024-07-22
2. Clinical Characteristics Suggestive of a Genetic Cause in Cerebral Palsy: A Systematic Review;Pediatric Neurology;2024-04
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