Citations for
1DEAF1, MRD24
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
Faqeih EA, Al-Owain M, Colak D, Kenana R, Al-Yafee Y, Al-Dosary M, Al-Saman A, Albalawi F, Al-Sarar D, Domiaty D, Daghestani M, Kaya N.
Am J Med Genet A 164(6):1565-70. doi: 10.1002/ajmg.a.36482. Epub 2014 Mar 25. 2014
2DEAF1, MRD24
Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems.
Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, Cai X, Willaert A, Zweier C, Endele S, de Ligt J, van Bon BW, Lugtenberg D, de Vries PF, Veltman JA, van Bokhoven H, Brunner HG, Rauch A, de Brouwer AP, Carvill GL, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Menten B, Collard MW, de Vries BB.
Am J Hum Genet 94(5):649-61. doi: 10.1016/j.ajhg.2014.03.013. Epub 2014 Apr 10. 2014
3MRAR6, MRD24, MRT10, MRT21, MRT23, MRT24, MRT25, MRT27, MRT28, MRT29, MRT30, MRT9, TRAPPC9
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity.
Abou Jamra R, Wohlfart S, Zweier M, Uebe S, Priebe L, Ekici A, Giesebrecht S, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Nöthen MM, Schumacher J, Reis A.
Eur J Hum Genet 19(11):1161-6. doi: 10.1038/ejhg.2011.98. Epub 2011 Jun 1. 2011