Citations for
1MCM3AP, PNRIID
Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease
Dong HL, Wei Q, Li JQ, Li HF, Bai G, Ma H, Wu ZY
J Peripher Nerv Syst. Jun;25(2):107-111. doi: 10.1111/jns.12377. Epub 2020 May 7 2020
2MCM3AP, PNRIID
Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP
Sedghi M, Moslemi AR, Cabrera-Serrano M, Ansari B, Ghasemi M, Baktashian M, Fattahpour A, Tajsharghi H.
Brain Commun. Sep 3;1(1):fcz011. doi: 10.1093/braincomms/fcz011. 2019
3MCM3AP, PNRIID
. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H
Brain Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138 2017
4BCORL1, CRTRD, DDHD2, IDBDD, MCM3AP, PNRIID, PTPRT, SLC6A8, SPG54, SYNE1, ZNF528
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, Gilissen C, Hehir-Kwa JY, Neveling K, del Rosario M, Hira G, Reitano S, Vitello A, Failla P, Greco D, Fichera M, Galesi O, Kleefstra T, Greally MT, Ockeloen CW, Willemsen MH, Bongers EM, Janssen IM, Pfundt R, Veltman JA, Romano C, Willemsen MA, van Bokhoven H, Brunner HG, de Vries BB, de Brouwer AP.
J Med Genet. Dec;50(12):802-11. doi: 10.1136/jmedgenet-2013-101644. Epub 2013 Oct 11. 2013