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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
D. Doherty, M. A. Parisi, L. S. Finn, M. Gunay-Aygun, M. Al-Mateen, D. Bates, C. Clericuzio, H. Demir, M. Dorschner, A. J. Van Essen, W. A. Gahl, M. Gentile, N. T. Gorden, A. Hikida, D. Knutzen, H. Özyurek, I. Phelps, P. Rosenthal, A. Verloes, H. Weigand
Research output: Contribution to journal › Article › peer-review
117
Scopus
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