Melissa A. Parisi

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome

Chanjae Lee, Leslie G. Biesecker, John B. Wallingford, 2017, Cold Spring Harbor molecular case studies.

Joubert syndrome (and related disorders) (OMIM 213300)

I. Glass, P. Chance, M. Parisi, 2007, European Journal of Human Genetics.