Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
- Mori, R. de
- Romani, M.
- D'Arrigo, S.
- Zaki, M.S.
- Lorefice, E.
- Tardivo, S.
- Biagini, T.
- Stanley, V.
- Musaev, D.
- Fluss, J.
- Micalizzi, A.
- Nuovo, S.
- Illi, B.
- Chiapparini, L.
- Marcotullio, L. Di
- Issa, M.Y.
- Anello, D.
- Casella, A.
- Ginevrino, M.
- Leggins, A.S.
- Roosing, S.
- Alfonsi, R.
- Rosati, J.
- Schot, R.
- Mancini, G.M.S.
- Bertini, E.
- Dobyns, W.B.
- Mazza, T.
- Gleeson, J.G.
- Valente, E.M.
DOIAbstract
Contains fulltext : 182760.pdf (publisher's version ) (Open Access
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