1 | HSD17B10, MRX17, MRX31 |
Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism. | |
Yang SY, He XY, Olpin SE, Sutton VR, McMenamin J, Philipp M, Denman RB, Malik M. | |
Proc Natl Acad Sci U S A 106(35):14820-4. Epub 2009 Aug 17.PMID: 19706438 2009 | |
2 | DUPXPP, HSD17B10, HUWE1, MRX17, MRX31 |
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. | |
Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, GŽcz J. | |
Am J Hum Genet 82(2):432-43. Epub 2008 Jan 24. 2008 | |
3 | MRX31 |
Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31). | |
Donnelly AJ, Partington MW, Ryan AK, Mulley JC. | |
Am J Med Genet 64(1):113-20. 1996 | |