New insights into genotype-phenotype correlation for GLI3 mutations

European Journal of Human Genetics

Volumn 23, Issue 1, 2015, Pages 92-102

  Démurger, Florence ^a   Ichkou, Amale ^b   Mougou Zerelli, Soumaya ^b,c   Le Merrer, Martine ^b   Goudefroye, Géraldine ^b   Delezoide, Anne Lise ^d   Quélin, Chloé ^a   Manouvrier, Sylvie ^e   Baujat, Geneviève ^b,f   Fradin, Mélanie ^a   Pasquier, Laurent ^a   Megarbané, André ^g   Faivre, Laurence ^h   Baumann, Clarisse ^d   Nampoothiri, Sheela ⁱ   Roume, Joëlle ^j   Isidor, Bertrand ^k   Lacombe, Didier ^l   Delrue, Marie Ange ^l   Mercier, Sandra ^k   Philip, Nicole ^m   Schaefer, Elise ⁿ   Holder, Muriel ^e   Krause, Amanda ^o   Laffargue, Fanny ^p   Sinico, Martine ^q   Amram, Daniel ^r   André, Gwenaelle ^s   Liquier, Alain ^t   Rossi, Massimiliano ^u   Amiel, Jeanne ^b,f   Giuliano, Fabienne ^v   Boute, Odile ^e   Dieux Coeslier, Anne ^e   Jacquemont, Marie Line ^w   Afenjar, Alexandra ^x,y   Van Maldergem, Lionel ^z   Lackmy Port Lis, Marylin ^aa   Vincent Delorme, Catherine ^ab   Chauvet, Marie Liesse ^b   Cormier Daire, Valérie ^b   Devisme, Louise ^e   Geneviève, David ^ac   Munnich, Arnold ^b,f   Viot, Géraldine ^ad   Raoul, Odile ^b   Romana, Serge ^b,f   Gonzales, Marie ^y   Encha Razavi, Ferechte ^b,f   Odent, Sylvie ^a   Vekemans, Michel ^b,f   Attie Bitach, Tania ^b,f,ae   more..

^a SERVICE DE RHUMATOLOGIE   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c FARHAT HACHED HOSPITAL   (Tunisia)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f UNIVERSITÉ PARIS DESCARTES   (France)

^g SAINT JOSEPH UNIVERSITY   (Lebanon)

^h Medical University of Dijon   (France)

ⁱ AMRITA INSTITUTE OF MEDICAL SCIENCES   (India)

^j Unité de Génétique Médicale   (France)

^k NANTES UNIVERSITY HOSPITAL   (France)

^l BORDEAUX UNIVERSITY HOSPITAL   (France)

^m TIMONE HOSPITAL   (France)

ⁿ UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^o Hillbrow Community Hospital   (South Africa)

^p UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^q Service d'Anatomie Pathologique   (France)

^r Unité de Génétique Clinique   (France)

^s HÔPITAL PELLEGRIN   (France)

^t Laboratoire Bioffice   (France)

^u HOSPICES CIVILS DE LYON   (France)

^v CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^w Centre d'Etudes Périnatales de l'Océan Indien EA7388   (France)

^x PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^y ARMAND TROUSSEAU HOSPITAL   (France)

^z UNIVERSITÉ DE FRANCHE COMTÉ   (France)

^aa CHU de Pointe a Pitre   (France)

^ab Service de Génétique Gustave Roussy Cancer Campus   (France)

^ac MONTPELLIER UNIVERSITY HOSPITAL   (France)

^ad NONE   (France)

^ae INSERM   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR GLI3; GLI3 PROTEIN, HUMAN; KRUPPEL LIKE FACTOR; NERVE PROTEIN;

ARTICLE; CORPUS CALLOSUM; CRANIOFACIAL SYNOSTOSIS; DISEASE ASSOCIATION; EYE MALFORMATION; FACE MALFORMATION; FOOT MALFORMATION; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; HAND MALFORMATION; HUMAN; LETHALITY; LIMB MALFORMATION; MACROCEPHALY; MAJOR CLINICAL STUDY; PALLISTER HALL SYNDROME; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; ABNORMALITIES, MULTIPLE; ACROCEPHALOSYNDACTYLIA; COHORT ANALYSIS; DNA MUTATIONAL ANALYSIS; FAMILY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE REARRANGEMENT; GENETIC ASSOCIATION STUDY; GENETICS; HAPLOINSUFFICIENCY; MUTATION;

ABNORMALITIES, MULTIPLE; ACROCEPHALOSYNDACTYLIA; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FAMILY; GENE EXPRESSION; GENE REARRANGEMENT; GENETIC ASSOCIATION STUDIES; HAPLOINSUFFICIENCY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE;

EID: 84927051292     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.62     Document Type: Article

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