TY  - GEN
AU  - Brancati,Francesco
AU  - Iannicelli,Miriam
AU  - Travaglini,Lorena
AU  - Mazzotta,Annalisa
AU  - Bertini,Enrico
AU  - Boltshauser,Eugen
AU  - D'Arrigo,Stefano
AU  - Emma,Francesco
AU  - Fazzi,Elisa
AU  - Gallizzi,Romina
AU  - Gentile,Mattia
AU  - Loncarevic,Damir
AU  - Mejaski-Bosnjak,Vlatka
AU  - Pantaleoni,Chiara
AU  - Rigoli,Luciana
AU  - Salpietro,Carmelo D
AU  - Signorini,Sabrina
AU  - Stringini,Gilda Rita
AU  - Verloes,Alain
AU  - Zabloka,Dominika
AU  - Dallapiccola,Bruno
AU  - Gleeson,Joseph G
AU  - Valente,Enza Maria
TI  - MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement
SN  - 1098-1004
PY  - 2009///0410
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - DNA Mutational Analysis
KW  - Humans
KW  - Liver
KW  - pathology
KW  - Magnetic Resonance Imaging
KW  - Membrane Proteins
KW  - chemistry
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Phenotype
KW  - RNA Splice Sites
KW  - Syndrome
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.20924
ER  -