Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

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Publication year
2017
Author(s)
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.
Source
American Journal of Human Genetics, 101, 4, (2017), pp. 552-563
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DOI
Publication type
Article / Letter to editor
Please use this identifier to cite or link to this item: https://hdl.handle.net/2066/182760   https://hdl.handle.net/2066/182760
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