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French Kabuki Syndrome Network

France, 2009 - 2013
Reference ID
FRESH-PEF60191-en
Producer(s)
Stanislas;LYONNET, Kim-Hanh;LE QUAN SANG, David;GENEVIEVE, Honorine;KAYIRANGWA
Metadata
DDI/XML JSON
Study website Interactive tools
Created on
Dec 18, 2025
Last modified
Dec 18, 2025
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2
  • Identification
  • Scope
  • Coverage
  • Producers and sponsors
  • Sampling
  • Survey instrument
  • Data collection
  • Study activities
  • Data Access
  • Contacts
  • Metadata production

    • Identification

    Survey ID number

    FRESH-PEF60191-en
    Title

    French Kabuki Syndrome Network
    Abbreviation or Acronym

    RFSK
    Country
    Name Country code
    France fr
    Kind of Data

    ['Clinical data','Participant-reported health data','Biological data','Paraclinical data (non-biological) : Imaging']
    Unit of Analysis

    Individuals

    Scope

    Topics
    Topic Vocabulary
    Syndromes with multiple structural anomalies, not of environmental origin cim-11
    Biological determinants: Genetic predisposition health determinant
    Biological determinants health determinant
    Keywords
    épidémiology kabuki genetics newborn

    Coverage

    Universe

    {
    "level_sex_clusion_I": [
    {
    "value": "Male",
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D008297"
    }
    },
    {
    "value": "Female",
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D005260"
    }
    }
    ],
    "level_age_clusion_I": [
    {
    "value": "Infant, Newborn (birth to 28 days)",
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D007231"
    }
    },
    {
    "value": "Infant (28 days to 2 years)",
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D007223"
    }
    }
    ],
    "level_type_clusion_I": "Patients population",
    "level_type_clusion_other": "",
    "clusion_I": "",
    "clusion_E": ""
    }

    Producers and sponsors

    Primary investigators
    Name
    Stanislas;LYONNET
    Kim-Hanh;LE QUAN SANG
    David;GENEVIEVE
    Honorine;KAYIRANGWA
    Producers
    Name
    ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)
    Funding Agency/Sponsor
    Name
    MINISTERE DU TRAVAIL, DE LA SANTE, DES SOLIDARITES ET DES FAMILLES

    Sampling

    Sample frame

    Unit Type

    ['Through organizations (health services or institutions, schools, businesses, etc.)']
    Sampling Procedure

    ['{"concept":{"vocabURI":"Other","vocab":"CESSDA"},"value":"Other"}']

    Survey instrument

    Questionnaires

    Access on specific project only
    Methodology notes

    Observational Study

    Data collection

    Dates of Data Collection
    Start End
    2009-01-01 2013-01-01
    Mode of data collection
    • {"concept":{"vocabURI":"SelfAdministeredQuestionnaire","vocab":"CESSDA"},"value":"Self-administered questionnaire"}
    • {"concept":{"vocabURI":"Interview","vocab":"CESSDA"},"value":"Interview with the participant (including clinical)"}

    Study activities

    Study activities
    Type
    primary evaluation
    Description
    Health event/morbidity Health event/mortality

    Data Access

    Access conditions

    Contact the principal investigator
    Availability Status

    {"value":"Restricted access","extLink":[{"title":"COAR","uri":"http://purl.org/coar/access_right/c_16ec"}]}

    Contacts

    Contacts
    Name Email
    Stanislas;LYONNET stanislas.lyonnet@aphp.fr
    Kim-Hanh;LE QUAN SANG kh.lequansang@aphp.fr
    David;GENEVIEVE d-genevieve@chu-montpellier.fr
    Honorine;KAYIRANGWA honorine.kayirangwa@aphp.fr

    Metadata production

    DDI Document ID

    FRESH-PEF60191-en
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