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

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

DOI Full Paper Access

58

Citations

40

References

2017

Year

Roberta De Mori, Marta Romani, Stefano D’Arrigo, Maha S. Zaki, Elisa Lorefice, Silvia Tardivo, Tommaso Biagini, Valentina Stanley, Damir Musaev, Joël Fluss,

The American Journal of Human Genetics

Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGeneticsCause Joubert SyndromeCraniofacial DevelopmentMorphogenesisSufu ImpairMolecular GeneticsMedicineCraniofacial DisorderSonic Hedgehog Pathway

References

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