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ID

45306

Descrizione

Principal Investigator: William Crowley, PhD, Massachusetts General Hospital, Boston, MA, USA MeSH: GnRH,Kallmann Syndrome,Hypogonadism https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000475 The purpose of this study is to discover genetic mutations in patients who have GnRH deficient states. This includes individuals with variant forms of hypogonadotropic hypogonadism, including individuals who have somatic anomalies involving mid-line facial defects, renal agenesis, synkinesia, and ataxia, amongst others.

collegamento

dbGaP study = phs000475

Keywords

  1. 19/10/22 19/10/22 - Adrian Schulz
Titolare del copyright

William Crowley, PhD, Massachusetts General Hospital, Boston, MA, USA

Caricato su

19 ottobre 2022

DOI

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Licenza

Creative Commons BY 4.0

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    dbGaP phs000475 The Molecular Basis of Inherited Reproductive Disorders

    Eligibility Criteria

    Inclusion and exclusion criteria
    Descrizione

    Inclusion and exclusion criteria

    Alias
    UMLS CUI [1,1]
    C1512693 (Inclusion)
    UMLS CUI [1,2]
    C0680251 (Exclusion Criteria)
    Participants must undergo and physical and laboratory examination to determine their diagnosis. The diagnosis can be aided by the performance of brain imaging, and smell testing. Patients with GnRH deficiency (partial or complete, congenital or adult onset) and their family members are allowed to participate.
    Descrizione

    Elig.phs000475.v1.p1.1

    Tipo di dati

    boolean

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7

    Similar models

    Eligibility Criteria

    Name
    genere
    Description | Question | Decode (Coded Value)
    Tipo di dati
    Alias
    Item Group
    Inclusion and exclusion criteria
    C1512693 (UMLS CUI [1,1])
    C0680251 (UMLS CUI [1,2])
    Elig.phs000475.v1.p1.1
    Item
    Participants must undergo and physical and laboratory examination to determine their diagnosis. The diagnosis can be aided by the performance of brain imaging, and smell testing. Patients with GnRH deficiency (partial or complete, congenital or adult onset) and their family members are allowed to participate.
    boolean
    C3846158 (UMLS CUI [1,1])

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