IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients: Identification of a new type of minor VWS sign

Molecular Syndromology

Volumn 1, Issue 2, 2010, Pages 67-74

  Desmyter, L ^a   Ghassibe, M ^a   Revencu, N ^a,b   Boute, O ^c   Lees, M ^d   Francois G ^b   Verellen Dumoulin, C ^b   Sznajer, Y ^e   Moncla, A ^f   Benateau, H ^g   Claes, K ^h   Devriendt, K ⁱ   Mathieu, M ^j   Van Maldergem, L ^k   Addor, M C ^l   Drouin Garraud, V ^m   Mortier, G ^h,n   Bouma, M ^o   Dieux Coeslier, A ^p   Genevieve, D ^q   Goldenberg, A ^m   Gozu, A ^r   Makrythanasis, P ^s   McEntagart, M ^t   Sanchez, A ^u   Vilain, C ^v   Vermeer, S ^w   Connell, F ^t   Verheij, J ^o   Manouvrier, S ^c   Pierquin, G ^k   Odent, S ^x   Holder Espinasse, M ^c   Vincent Delorme, C ^y   Gillerot, Y ^b   Vanwijck, R ^b   Bayet, B ^b   Vikkula, M ^a   more..

^a DE DUVE INSTITUTE   (Belgium)

^b CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^f TIMONE HOSPITAL   (France)

^g CAEN UNIVERSITY HOSPITAL   (France)

^h GHENT UNIVERSITY HOSPITAL   (Belgium)

ⁱ UNIVERSITY OF LEUVEN   (Belgium)

^j AMIENS UNIVERSITY HOSPITAL   (France)

^k UNIVERSITY OF LIÈGE   (Belgium)

^l LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^m HÔPITAL CHARLES NICOLLE   (France)

ⁿ ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^o UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^p Centre Hospitalier de LENS   (France)

^q HÔPITAL NECKER ENFANTS MALADES   (France)

^r VAKIF GUREBA TRAINING AND RESEARCH HOSPITAL   (Turkey)

^s GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^t ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^u HOSPITAL CLÍNIC   (Spain)

^v UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^w RUNMC   (Netherlands)

^x SERVICE DE RHUMATOLOGIE   (France)

^y Centre Hospitalier d'Arras   (France)

more..

Author keywords

Cleft palate; Genetic; IRF6; Non syndromic cleft lip; PPS; VWS

Indexed keywords

INTERFERON REGULATORY FACTOR 6;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLEFT LIP; CLEFT PALATE; CONTROLLED STUDY; EXON; FAMILY HISTORY; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC SCREENING; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LOWER LIP; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOUTH MALFORMATION; NONSENSE MUTATION; POPLITEAL PTERYGIUM SYNDROME; PRIORITY JOURNAL; VAN DER WOUDE SYNDROME;

EID: 79851516211     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000313786     Document Type: Article

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