Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects
ContributorsDe Mori, Roberta; Romani, Marta; D'Arrigo, Stefano; Zaki, Maha S; Lorefice, Elisa; Tardivo, Silvia; Biagini, Tommaso; Stanley, Valentina; Musaev, Damir; Fluss, Joel Victor; Micalizzi, Alessia; Nuovo, Sara; Illi, Barbara; Chiapparini, Luisa; Di Marcotullio, Lucia; Issa, Mahmoud Y; Anello, Danila; Casella, Antonella; Ginevrino, Monia; Leggins, Autumn Sa'na; Roosing, Susanne; Alfonsi, Romina; Rosati, Jessica; Schot, Rachel; Mancini, Grazia Maria Simonetta; Bertini, Enrico; Dobyns, William B; Mazza, Tommaso; Gleeson, Joseph G; Valente, Enza Maria
Published inAmerican Journal of Human Genetics, vol. 101, no. 4, p. 552-563
Publication date2017
Abstract
Keywords
- Abnormalities
- Multiple/genetics/pathology
- Bone Diseases
- Developmental/genetics/pathology
- Cells
- Cultured
- Cerebellum/abnormalities/pathology
- Child
- Cohort Studies
- Craniofacial Abnormalities/genetics/pathology
- Eye Abnormalities/genetics/pathology
- Female
- Fibroblasts/metabolism/pathology
- Gene Expression Regulation
- Developmental
- Genes
- Recessive
- Hedgehog Proteins/metabolism
- Humans
- Kidney Diseases
- Cystic/genetics/pathology
- Kruppel-Like Transcription Factors/metabolism
- Male
- Mutation
- Missense
- Nerve Tissue Proteins/metabolism
- Repressor Proteins/chemistry/genetics/metabolism
- Retina/abnormalities/pathology
- Sequence Analysis
- DNA
- Signal Transduction
- Skin/metabolism/pathology
- Zinc Finger Protein Gli3
Citation (ISO format)
DE MORI, Roberta et al. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. In: American Journal of Human Genetics, 2017, vol. 101, n° 4, p. 552–563. doi: 10.1016/j.ajhg.2017.08.017
Main files (1)
Article (Published version)
Identifiers
- PID : unige:107721
- DOI : 10.1016/j.ajhg.2017.08.017
- PMID : 28965847
ISSN of the journal0002-9297