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

R Mori, M Romani, S D'Arrigo, MS Zaki, E Lorefice, S Tardivo, T Biagini, V Stanley, D Musaev, J Fluss, A Micalizzi, S Nuovo, B Illi, L Chiapparini, L Di Marcotullio, MY Issa, D Anello, A Casella, M Ginevrino, AS LegginsS Roosing, R Alfonsi, J Rosati, Rachel Schot, Grazia Verheijen - Mancini, E Bertini, WB Dobyns, T Mazza, JG Gleeson, EM Valente

Research output: Contribution to journalArticleAcademicpeer-review

40 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)552-563
Number of pages12
JournalAmerican Journal of Human Genetics
Issue number4
Publication statusPublished - 2017

Research programs

  • EMC OR-01

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