| 1 | MRD41, TBL1XR1
|
| Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.
|
| Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M.
|
| Eur J Med Genet 60(10):504-508. doi: 10.1016/j.ejmg.2017.07.003. Epub 2017 Jul 4. 2017
|
| 2 | MRD41, TBL1XR1
|
| A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
|
| Riehmer V, Erger F, Herkenrath P, Seland S, Jackels M, Wiater A, Heller R, Beck BB, Netzer C.
|
| Am J Med Genet A 173(8):2132-2138. doi: 10.1002/ajmg.a.38285. Epub 2017 Jun 2.
2017
|
| 3 | MRD41, TBL1XR1
|
| A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.
|
| Pons L, Cordier MP, Labalme A, Till M, Louvrier C, Schluth-Bolard C, Lesca G, Edery P, Sanlaville D.
|
| Am J Med Genet A 167A(1):164-8. doi: 10.1002/ajmg.a.36759. Epub 2014 Nov 25.
2015
|
| 4 | MRD41, TBL1XR1
|
| A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
|
| Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y, Nishino I, Ohtake A, King MC, Matsumoto N.
|
| J Hum Genet 59(10):581-3. doi: 10.1038/jhg.2014.71. Epub 2014 Aug 7.
2014
|
| 5 | MRD41, TBL1XR1
|
| De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.
|
| Tabet AC, Leroy C, Dupont C, Serrano E, Hernandez K, Gallard J, Pouvreau N, Gadisseux JF, Benzacken B, Verloes A.
|
| Am J Med Genet A 164A(9):2335-7. doi: 10.1002/ajmg.a.36619. Epub 2014 May 28.
2014
|