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Journal article

Doherty, D.; Parisi, M. A.; Finn, L. S.; Gunay-Aygun, M.; Al-Mateen, M.; Bates, D.; Clericuzio, C.; Demir, H.; Dorschner, M.; van Essen, A. J.; Gahl, W. A.; Gentile, M.; Gorden, N. T.; Hikida, A.; Knutzen, D.; Ozyurek, H.; Phelps, I.; Rosenthal, P.; Verloes, A.; Weigand, H.; Chance, P. F.; Dobyns, W. B. and Glass, I. A. (January 2010): Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). In: Journal of medical genetics, Vol. 47, No. 1: pp. 8-21 [PDF, 4MB]

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