A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
- Creator: Ben-Mahmoud, Afif , Kishikawa, Shotaro , Gupta, Vijay , Leach, Natalie T. , Shen, Yiping , Moldovan, Oana , Goel, Himanshu , Hopper, Bruce , Ranguin, Kara , Gruchy, Nicolas , Maas, Saskia M. , Lacassie, Yves , Kim, Soo-Hyun , Kim, Woo-Yang , Quade, Bradley J. , Morton, Cynthia C. , Kim, Cheol-Hee , Layman, Lawrence C. , Kim, Hyung-Goo
- Resource Type: journal article
- Date: 2023
OTX2 duplications: A recurrent cause of oculo-auriculo-vertebral spectrum
- Creator: Celse, Tristan , Tingaud-Sequeira, Angèle , Satre, Véronique , Vieville, Gaelle , Bidart, Marie , Zander, Cecilia Soussi , Turesson, Ann-Charlotte , Splitt, Miranda , Reboul, Dorothee , Chiesa, Jean , Van Kien, Philippe Khau , Godin, Manon , Dieterich, Klaus , Gruchy, Nicolas , Goel, Himanshu , Palmer, E , Demetriou, K , Shalhoub, C , Rooryck-Thambo, C , Coutton, C , Siegfried, Geraldine , Lecaignec, Cédric , Bouneau, Laurence , Fannemel, Madeleine , Salaun, Gaelle , Laffargue, Fanny , Martinez, Guillaume
- Resource Type: journal article
- Date: 2022