MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression
Open Access
- 9 April 2008
- journal article
- case report
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 16 (9), 1029-1037
- https://doi.org/10.1038/ejhg.2008.66
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- The MCT8 thyroid hormone transporter and Allan–Herndon–Dudley syndromeBest Practice & Research Clinical Endocrinology & Metabolism, 2007
- Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumHuman Mutation, 2007
- X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11European Journal of Human Genetics, 2006
- Mechanisms of Disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8Nature Clinical Practice Endocrinology & Metabolism, 2006
- Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporterJournal of Medical Genetics, 2005
- Prediction of deleterious human allelesHuman Molecular Genetics, 2001
- Systematic analysis of X-inactivation in 19 XLMR families: extremely skewed profiles in carriers in three familiesEuropean Journal of Human Genetics, 2000
- De novo der(X)t(X;10)(q26;q21) with features of distal trisomy 10q: case report of paternal origin identified by late replication with BrdU and the human androgen receptor assay (HAR).Journal of Medical Genetics, 1997
- Clinical application of FISH for sex determination of embryos in preimplantation diagnosis of X-linked diseasesJournal of Assisted Reproduction and Genetics, 1996
- A novel transmembrane transporter encoded by the XPCT gene in Xq13.2Human Molecular Genetics, 1994