Putoux, Audrey; Thomas, Sophie; Coene, Karlien L. M.; Davis, Erica E.; Alanay, Yasemin; Ogur, Gonul; Uz, Elif; Buzas, Daniela; Gomes, Celine; Patrier, Sophie; Bennett, Christopher L.; Elkhartoufi, Nadia; Saint Frison, Marie-Helene; Rigonnot, Luc; Joye, Nicole; Pruvost, Solenn; Utine, Gulen Eda; Boduroglu, Koray; Nitschke, Patrick; Fertitta, Laura; Thauvin-Robinet, Christel; Munnich, Arnold; Cormier-Daire, Valerie; Hennekam, Raoul; Colin, Estelle; Akarsu, Nurten Ayse; Bole-Feysot, Christine; Cagnard, Nicolas; Schmitt, Alain; Goudin, Nicolas; Lyonnet, Stanislas; Encha-Razavi, Ferechte; Siffroi, Jean-Pierre; Winey, Mark; Katsanis, Nicholas; Gonzales, Marie; Vekemans, Michel; Beales, Philip L.; Attie-Bitach, Tania (Nature Publishing Group, 2011)
KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation ...