(PDF) Hypomorphic Recessive Variants in SUFU Impair the

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

American Journal of Human Genetics - United States

doi 10.1016/j.ajhg.2017.08.017

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