MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
Frints SG, Lenzner S, Bauters M, Jensen LR, Van Esch H, des Portes V, Moog U, Macville MV, van Roozendaal K, Schrander-Stumpel CT, Tzschach A, Marynen P, Fryns JP, Hamel B, van Bokhoven H, Chelly J, Beldjord C, Turner G, Gecz J, Moraine C, Raynaud M, Ropers HH, Froyen G, Kuss AW.
Frints SG, et al. Among authors: moog u.
Eur J Hum Genet. 2008 Sep;16(9):1029-37. doi: 10.1038/ejhg.2008.66. Epub 2008 Apr 9.
Eur J Hum Genet. 2008.
PMID: 18398436