Biallelic loss-of-function variations in SMO, encoding the key transducer of the Sonic Hedgehog pathway, cause a broad phenotypic spectrum of hedgehogopathies

TL Le, Y Sribudiani, X Dong, C Huber, C Kois, G Baujat, CT Gordon, V Mayne, L Galmiche, V Serre, N Goudin, M Zarhrate, C Bole-Feysot, C Masson, P Nitschke, FW Verheijen, L Pais, A Pelet, S Sadedin, JA Pugh Show all