References
- Asadollahi R, Oneda B, Sheth F, Azzarello-Burri S, Baldinger R, Joset P, et al. Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. Eur J Hum Genet. 2013;21(10):1100–1104. doi: 10.1038/ ejhg.2013.17
- Deciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017;542(7642):433–8. doi: 10.1038/nature21062
- Muncke N, Jung C, Rüdiger H, Ulmer H, Roeth R, Hubert A, et al. Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). Circulation. 2003;108(23):2843–50. doi: 10.1161/01.CIR.0000103684.77636.CD
- Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, et al. MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics. 2018;19(2):93–103. doi: 10.1007/s10048-018-0541-0
- Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, et al. Is MED13L-related intellectual disability a recognizable syndrome? Eur J Med Genet. 2019;62(2):129–36. doi: 10.1016/j.ejmg.2018.06.014
- Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, et al. Redefining the MED13L syndrome. Eur J Hum Genet. 2015;23(10):1308–17. doi: 10.1038/ejhg.2015.26
- Asadollahi R, Zweier M, Gogoll L, Schifmann R, Sticht H, Steindl K, et al. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. Eur J Med Genet. 2017;60(9):451–64. doi: 10.1016/j. ejmg.2017.06.004