Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Authors :: 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.
Glass, I.A.
Source :: Journal of Medical Genetics. Jan, 2010, Vol. 47 Issue 1, p8, 14 p.
Publication Year :: 2010

Subjects :: Gene mutations -- Identification and classification
Gene mutations -- Research
Health

Tools