Joubert syndrome 32
Joubert syndrome 32 is an autosomal recessive disorder caused by mutations of the SUFU gene.
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.[^]
OMIM.ORG articleOmim 617757 [^]