Video Upload Options

References

1. Asadollahi R, Oneda B, Sheth F, Azzarello-Burri S, Baldinger R, Joset P, LatalB, Knirsch W, Desai S, Baumer A, Houge G, Andrieux J, Rauch A. Dosage changes of MED13L further delineate its role in congenital heart defects and intellectualdisability. Eur J Hum Genet. 2013 Oct;21(10):1100-4. doi: 10.1038/ejhg.2013.17.
2. Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A. Genotype-phenotype evaluation of MED13L defects in the light of a noveltruncating and a recurrent missense mutation. Eur J Med Genet. 2017Sep;60(9):451-464. doi: 10.1016/j.ejmg.2017.06.004.
3. Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A,Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M. Novel de novo heterozygous loss-of-function variants inMED13L and further delineation of the MED13L haploinsufficiency syndrome. Eur JHum Genet. 2015 Nov;23(11):1499-504. doi: 10.1038/ejhg.2015.19.
4. Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, BedoukianEC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R,Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A,Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C,Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B,Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, MignotC, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A,Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J. MED13L-relatedintellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0.
5. van Haelst MM, Monroe GR, Duran K, van Binsbergen E, Breur JM, Giltay JC, van Haaften G. Further confirmation of the MED13L haploinsufficiency syndrome. Eur J Hum Genet. 2015 Jan;23(1):135-8. doi: 10.1038/ejhg.2014.69.
6. Yamamoto T, Shimojima K, Ondo Y, Shimakawa S, Okamoto N. MED13Lhaploinsufficiency syndrome: A de novo frameshift and recurrent intragenicdeletions due to parental mosaicism. Am J Med Genet A. 2017 May;173(5):1264-1269.doi: 10.1002/ajmg.a.38168.