MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement

Human Mutation

Volumn 30, Issue 2, 2009, Pages E432-E442

  Brancati, Francesco ^a,b   Iannicelli, Miriam ^a,c   Travaglini, Lorena ^a,c   Mazzotta, Annalisa ^a   Bertini, Enrico ^d   Boltshauser, Eugen ^e   D’Arrigo, Stefano ^f   Emma, Francesco ^d   Fazzi, Elisa ^g   Gallizzi, Romina ^h   Gentile, Mattia ⁱ   Loncarevic, Damir ^j   Mejaski Bosnjak, Vlatka ^j   Pantaleoni, Chiara ^f   Rigoli, Luciana ^h   Salpietro, Carmelo D ^h   Signorini, Sabrina ^g   Stringini, Gilda Rita ^d   Verloes, Alain ^k   Zabloka, Dominika ^l   Dallapiccola, Bruno ^a,c   Gleeson, Joseph G ^a   Valente, Enza Maria ^a,h   Zankl, A ^m   Leventer, R ^m   Smith, P Grattan ^m   Janecke, A ^m   D'Hooghe M ^m   Sznajer, Y ^m   Van Coster, R ^m   Demerleir, L ^m   Dias, K ^m   Moco, C ^m   Moreira, A ^m   Ae Kim, C ^m   Maegawa, G ^m   Petkovic, D ^m   Abdel Salam, G M H ^m   Abdel Aleem, A ^m   Zaki, M S ^m   Marti, I ^m   Quijano Roy, S ^m   Sigaudy, S ^m   De Lonlay, P ^m   Romano, S ^m   Touraine, R ^m   Koenig, M ^m   Lagier Tourenne, C ^m   Messer, J ^m   Collignon, P ^m   Wolf, N ^m   Philippi, H ^m   Tzeli, S Kitsiou ^m   Halldorsson, S ^m   Johannsdottir, J ^m   Ludvigsson, P ^m   Phadke, S R ^m   Udani, V ^m   Stuart, B ^m   Magee, A ⁿ   Lev, D ^m   Michelson, M ^m   Ben Zeev, B ^m   Fischetto, R ^m   Benedicenti, F ^m   Stanzial, F ^m   Borgatti, R ^m   Accorsi, P ^m   Battaglia, S ^m   Giordano, L ^m   Pinelli, L ^m   Boccone, L ^m   Bigoni, S ^m   Ferlini, A ^m   Donati, M A ^m   Caridi, G ^m   Divizia, M T ^m   Faravelli, F ^m   Ghiggeri, G ^m   Pessagno, A ^m   Briuglia, S ^m   Tortorella, G ^m   Adami, A ^m   Castorina, P ^m   Lalatta, F ^m   Marra, G ^m   Riva, D ^m   Scelsa, B ^m   Spaccini, L ^m   Uziel, G ^m   Giudice, E Del ^m   Laverda, A M ^m   Ludwig, K ^m   Permunian, A ^m   Suppiej, A ^m   Uggetti, C ^m   Battini, R ^m   Giacomo, M Di ^m   Cilio, M R ^m   Di Sabato, M L ^m   Leuzzi, V ^m   Parisi, P ^m   Pollazzon, M ^m   Silengo, M ^m   De Vescovi, R ^m   Greco, D ^m   Romano, C ^m   Cazzagon, M ^m   Simonati, A ^m   Al Tawari, A A ^m   Bastaki, L ^m   Megarbane A ^m   Sabolic Avramovska, V ^m   De Jong, M M ^m   Stromme, P ^m   Koul, R ^m   Rajab, A ^m   Azam, M ^m   Barbot, C ^m   Martorell Sampol, L ^m   Rodriguez, B ^m   Pascual Castroviejo, I ^m   Teber, S ^m   Anlar, B ^m   Comu, S ^m   Karaca, E ^m   Kayserili, H ^m   Yuksel A ^m   Akcakus, M ^m   Gazali, L Al ^m   Sztriha, L ^m   Nicholl, D ^o   Woods, C G ^p   Bennett, C ^q   Hurst, J ^q   Sheridan, E ^q   Barnicoat, A ^r   Hennekam, R ^r   Lees, M ^r   Blair, E ^s   Bernes, S ^m   Sanchez, H ^m   Clark, A E ^t   Demarco, E ^m   Donahue, C ^m   Sherr, E ^m   Hahn, J ^m   Sanger, T D ^m   Gallager, T E ^m   Dobyns, W B ^m   Daugherty, C ^m   Krishnamoorthy, K S ^m   Sarco, D ^m   Walsh, C A ^m   McKanna, T ^m   Milisa, J ^m   Chung, W K ^m   De Vivo, D C ^m   Raynes, H ^m   Schubert, R ^m   Seward, A ^m   Brooks, D G ^m   Goldstein, A ^m   Caldwell, J ^m   Finsecke, E ^m   Maria, B L ^m   Holden, K ^m   Cruse, R P ^m   Swoboda, K J ^m   Viskochil, D ^m   more..

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF CHIETI   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

^g UNIVERSITY OF PAVIA   (Italy)

^h UNIVERSITY OF MESSINA   (Italy)

ⁱ NATIONAL INSTITUTE FOR DIGESTIVE DISEASES   (Italy)

^j Croatia   (Croatia)

^k HÔPITAL ROBERT DEBRÉ   (France)

^l UNIVERSITY OF CALIFORNIA   (United States)

^m NONE   (United States)

ⁿ Belfast   (United Kingdom)

^o Birmingham   (United Kingdom)

^p Cambridge ESOL   (United Kingdom)

^q Education Leeds   (United Kingdom)

^r London   (United Kingdom)

^s Oriel College Oxford   (United Kingdom)

^t Laguna Niguel MRI Inc   (United States)

more..

Author keywords

COACH syndrome; Congenital hepatic fibrosis; Joubert syndrome and related disorders; MKS3; TMEM67

Indexed keywords

MEMBRANE PROTEIN; MKS3 PROTEIN; UNCLASSIFIED DRUG; URSODEOXYCHOLIC ACID; TMEM67 PROTEIN, HUMAN;

ARTICLE; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CLINICAL ARTICLE; CLINICAL FEATURE; COACH SYNDROME; COLOBOMA; CONGENITAL HEPATIC FIBROSIS; CONTROLLED STUDY; DISEASE SEVERITY; ESOPHAGUS VARICES; FAMILY; GASTROINTESTINAL HEMORRHAGE; GENE IDENTIFICATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HEPATOMEGALY; HETEROZYGOSITY; HUMAN; JOUBERT SYNDROME; LIVER DISEASE; LIVER FIBROSIS; MISSENSE MUTATION; NEPHRONOPHTHISIS; OLIGOPHRENIA; POLYMERASE CHAIN REACTION; PORTAL HYPERTENSION; PRIORITY JOURNAL; AMINO ACID SEQUENCE; CHEMISTRY; GENETICS; LIVER; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; RNA SPLICING; SYNDROME;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; HUMANS; LIVER; MAGNETIC RESONANCE IMAGING; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; RNA SPLICE SITES; SYNDROME;

EID: 64049097155     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.20924     Document Type: Article

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