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Wentzensen, Ingrid M., Jennifer J. Johnston, John H. Patton, John M. Graham, Julie C. Sapp, a Leslie G. Biesecker. "Exome Sequencing Identifies a Mutation in OFD1 in a Male With Joubert Syndrome, Orofaciodigital Spectrum Anomalies and Complex Polydactyly." Hum Genome Var 2016.

Wentzensen, Ingrid M., et al. "Exome Sequencing Identifies a Mutation in OFD1 in a Male With Joubert Syndrome, Orofaciodigital Spectrum Anomalies and Complex Polydactyly." Hum Genome Var 2016.