Joubert syndrome 32 is an autosomal recessive disorder caused by mutations of the SUFU gene.
1. |
De Mori R et al. (2017) Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. |
2. |
OMIM.ORG article Omim 617757 |