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

Roberta De Mori, Marta Romani, Stefano D'Arrigo, Maha S. Zaki, Elisa Lorefice, Silvia Tardivo, Tommaso Biagini, Valentina Stanley, Damir Musaev, Joel Fluss, Alessia Micalizzi, Sara Nuovo, Barbara Illi, Luisa Chiapparini, Lucia Di Marcotullio, Mahmoud Y. Issa, Danila Anello, Antonella Casella, Monia Ginevrino, Autumn Sa'na LegginsSusanne Roosing, Romina Alfonsi, Jessica Rosati, Rachel Schot, Grazia Maria Simonetta Mancini, Enrico Bertini, William B. Dobyns, Tommaso Mazza, Joseph G. Gleeson, Enza Maria Valente

Research output: Contribution to journalArticlepeer-review

Original languageUndefined/Unknown
Pages (from-to)552-563
Number of pages12
JournalAmerican Journal of Human Genetics
Volume101
Issue number4
DOIs
Publication statusPublished - Oct 5 2017

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