{"doc_desc":{"title":"R\u00e9seau fran\u00e7ais du syndrome de kabuki","idno":"FRESH-PEF60191-fr","producers":[{"name":"Stanislas LYONNET","affiliation":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF60191-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"60191"},{"agency":"FReSH","code":"FRESH-PEF60191"}]},"title":"R\u00e9seau fran\u00e7ais du syndrome de kabuki","alternate_title":"RFSK"},"study_authorization":{"agency":[{"name":"CNIL"}]},"authoring_entity":[{"type":"investigator","name":"Honorine;KAYIRANGWA","PILabo":"Ap-HP","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"","uri":"","role":"pi id"},{"title":"","uri":"","role":"pi id"},{"title":"SIREN","uri":"267500452","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"honorine.kayirangwa@aphp.fr","isContact":"Oui"},{"type":"investigator","name":"Kim-Hanh;LE QUAN SANG","PILabo":"H\u00f4pital Necker-Enfants Malades","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"","uri":"","role":"pi id"},{"title":"","uri":"","role":"pi id"},{"title":"SIREN","uri":"267500452","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"kh.lequansang@aphp.fr","isContact":"Oui"},{"type":"investigator","name":"Stanislas;LYONNET","PILabo":"H\u00f4pital Necker-Enfants Malades","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"ORCID","uri":"0000-0001-5426-9417","role":"pi id"},{"title":"IdRef","uri":"092296521","role":"pi id"},{"title":"SIREN","uri":"267500452","role":"organisation id"},{"title":"RNSR","uri":"200815512F","role":"labo id"}],"email":"stanislas.lyonnet@aphp.fr","isContact":"Oui"},{"type":"investigator","name":"David;GENEVIEVE","PILabo":"CHRU MONTPELLIER, FACULT\u00c9 M\u00c9DECINE MONTPELLIER-N\u00ceMES, UNIVERSIT\u00c9 MONTPELLIER 1 \/ U844","affiliationName":"UNIVERSITE DE MONTPELLIER","extlink":[{"title":"ORCID","uri":"0000-0001-6928-6287","role":"pi id"},{"title":"IdRef","uri":"068913532","role":"pi id"},{"title":"SIREN","uri":"130029796","role":"organisation id"},{"title":"RNSR","uri":"200716494C","role":"labo id"}],"email":"d-genevieve@chu-montpellier.fr","isContact":"Oui"}],"oth_id":[{"name":""}],"production_statement":{"prod_place":"Portail Epid\u00e9miologie France (PEF)","producers":[{"name":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00pg5jh14","role":"sponsor id"},{"title":"SIREN","uri":"267500452","role":"sponsor id"}],"role":"sponsor"}],"funding_agencies":[{"name":"MINISTERE DU TRAVAIL, DE LA SANTE, DES SOLIDARITES ET DES FAMILLES","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/01wp0c315"},{"title":"SIREN","uri":"130016546"}]}]},"distribution_statement":{"contact":[{"name":"Honorine;KAYIRANGWA","email":"honorine.kayirangwa@aphp.fr","type":"contact","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id","title":"ROR"},{"uri":"267500452","role":"organisation id","title":"SIREN"}]},{"name":"Kim-Hanh;LE QUAN SANG","email":"kh.lequansang@aphp.fr","type":"contact","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id","title":"ROR"},{"uri":"267500452","role":"organisation id","title":"SIREN"}]},{"name":"Stanislas;LYONNET","email":"stanislas.lyonnet@aphp.fr","type":"contact","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id","title":"ROR"},{"uri":"267500452","role":"organisation id","title":"SIREN"}]},{"name":"David;GENEVIEVE","email":"d-genevieve@chu-montpellier.fr","type":"contact","affiliationName":"UNIVERSITE DE MONTPELLIER","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/051escj72","role":"organisation id","title":"ROR"},{"uri":"130029796","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"kabuki"},{"keyword":"\u00e9pid\u00e9miologie"},{"keyword":"g\u00e9n\u00e9tique"},{"keyword":"nouveau-n\u00e9"}],"topics":[{"topic":"Syndromes avec anomalies structurelles multiples, non d'origine environnementale","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1106405864","title":"CIM-11"}]},{"topic":"D\u00e9terminants biologiques : Pr\u00e9dispositions g\u00e9n\u00e9tiques","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"}],"purpose":"Cr\u00e9er un recensement pendant la dur\u00e9e de la recherche des patients fran\u00e7ais avec SK sur le territoire national dans la tentative de d\u00e9terminer une incidence r\u00e9aliste de SK et d'obtenir d'autres donn\u00e9es \u00e9pid\u00e9miologiques g\u00e9n\u00e9tiques. 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