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, N Shur,SM White, SE Chehadeh,J Christodoulou, V Cormier-Daire,Rmw Hofstra, S Lyonnet,TY Tan, T Attie-Bitach,WS Kerstjens-Frederikse, J Amiel,S Thomas

EUROPEAN JOURNAL OF HUMAN GENETICS(2020)

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