Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) (Q24609805)
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Language | Label | Description | Also known as |
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English | Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) |
scientific article |
Statements
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) (English)
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 Ozyurek
I Phelps
P Rosenthal
A Verloes
H Weigand
P F Chance
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