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

Journal of Medical Genetics

Volumn 47, Issue 1, 2010, Pages 8-21

  Doherty, D ^a   Parisi, M A ^b   Finn, L S ^a   Gunay Aygun, M ^b   Al Mateen, M ^c   Bates, D ^a   Clericuzio, C ^d   Demir, H ^e   Dorschner, M ^a   Van Essen, A J ^f   Gahl, W A ^b   Gentile, M ^g   Gorden, N T ^a   Hikida, A ^a   Knutzen, D ^a   Ozyurek H ^h   Phelps, I ^a   Rosenthal, P ⁱ   Verloes, A ^j   Weigand, H ^k   Chance, P F ^a   Dobyns, W B ^l   Glass, I A ^a   more..

^a UNIVERSITY OF WASHINGTON   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c Mary Bridge Pediatric Neurology   (United States)

^d UNIVERSITY OF NEW MEXICO HEALTH SCIENCES CENTER   (United States)

^e HACETTEPE UNIVERSITY   (Turkey)

^f UNIVERSITY OF GRONINGEN   (Netherlands)

^g NATIONAL INSTITUTE FOR DIGESTIVE DISEASES   (Italy)

^h ONDOKUZ MAYIS UNIVERSITY   (Turkey)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j HÔPITAL ROBERT DEBRÉ   (France)

^k UNIVERSITY OF MUNICH   (Germany)

^l UNIVERSITY OF CHICAGO   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATAXIA; CC2D2A GENE; CEP290 GENE; CEREBELLUM VERMIS; CHILD; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; FAMILY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN GENETICS; IMAGING; INTELLECTUAL IMPAIRMENT; JOUBERT SYNDROME; LIVER BIOPSY; LIVER DISEASE; LIVER FIBROSIS; MAJOR CLINICAL STUDY; MALE; MKS3 GENE; MUSCLE HYPOTONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RPGRIP1L GENE; SCHOOL CHILD;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ATAXIA; CEREBELLUM; COLOBOMA; FEMALE; HUMANS; INFANT; LIVER CIRRHOSIS; MALE; MEMBRANE PROTEINS; MENTAL RETARDATION; MUTATION; PROTEINS; SYNDROME; YOUNG ADULT;

EID: 74549148162     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.067249     Document Type: Article

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