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ID

45306

Description

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.

Lien

dbGaP study = phs000475

Mots-clés

Versions (1)
  1. 19/10/2022 19/10/2022 - Adrian Schulz
Détendeur de droits

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

Téléchargé le

19 octobre 2022

DOI

Pour une demande vous connecter.

Licence

Creative Commons BY 4.0
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    dbGaP phs000475 The Molecular Basis of Inherited Reproductive Disorders

    Anglais

    Eligibility Criteria

    5 Formulaires  
    Inclusion and exclusion criteria
    Description

    Inclusion and exclusion criteria

    Alias
    UMLS CUI [1,1]
    C1512693
    UMLS CUI [1,2]
    C0680251
    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.
    Description

    Elig.phs000475.v1.p1.1

    Type de données

    boolean

    Alias
    UMLS CUI [1,1]
    C3846158
    Retour au début de la page

    Similar models

    Eligibility Criteria

    5 Formulaires
    Name
    Type
    Description | Question | Decode (Coded Value)
    Type de données
    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])
    Retour au début de la page 

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