Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Autor Sirmaci, Asli, Spiliopoulos, Michail, Brancati, Francesco, Powell, Eric, Duman, Duygu, Abrams, Alex, Bademci, Guney, Agolini, Emanuele, Guo, Shengru, Konuk, Berrin, Kavaz, Asli, Blanton, Susan, Digilio, Maria Christina, Dallapiccola, Bruno, Young, Juan, Zuchner, Stephan, Tekin, Mustafa
Vydáno 2011

LRIG2 Mutations Cause Urofacial Syndrome

Autor Stuart, Helen M., Roberts, Neil A., Burgu, Berk, Daly, Sarah B., Urquhart, Jill E., Bhaskar, Sanjeev, Dickerson, Jonathan E., Mermerkaya, Murat, Silay, Mesrur Selcuk, Lewis, Malcolm A., Olondriz, M. Beatriz Orive, Gener, Blanca, Beetz, Christian, Varga, Rita E., Gülpınar, Ömer, Süer, Evren, Soygür, Tarkan, Özçakar, Zeynep B., Yalçınkaya, Fatoş, Kavaz, Aslı, Bulum, Burcu, Gücük, Adnan, Yue, Wyatt W., Erdogan, Firat, Berry, Andrew, Hanley, Neil A., McKenzie, Edward A., Hilton, Emma N., Woolf, Adrian S., Newman, William G.
Vydáno 2013