ID

45306

Beschrijving

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.

Link

dbGaP study = phs000475

Trefwoorden

Versies (1)
  1. 19-10-22 19-10-22 - Adrian Schulz
Houder van rechten

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

Geüploaded op

19 oktober 2022

DOI

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Licentie

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

Engels

Eligibility Criteria

5 Formulieren  
Inclusion and exclusion criteria
Beschrijving

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.
Beschrijving

Elig.phs000475.v1.p1.1

Datatype

boolean

Alias
UMLS CUI [1,1]
C3846158
Terug naar het begin van de pagina

Similar models

Eligibility Criteria

5 Formulieren
Name
Type
Description | Question | Decode (Coded Value)
Datatype
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])
Terug naar het begin van de pagina 

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