ID

45306

Beskrivning

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.

Länk

dbGaP study = phs000475

Nyckelord

Versioner (1)
  1. 19.10.22 19.10.22 - Adrian Schulz
Rättsinnehavare

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

Uppladdad den

19. Oktober 2022

DOI

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Licens

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

Engelsk

Eligibility Criteria

5 Formulär  
Inclusion and exclusion criteria
Beskrivning

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.
Beskrivning

Elig.phs000475.v1.p1.1

Datatyp

boolean

Alias
UMLS CUI [1,1]
C3846158
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Similar models

Eligibility Criteria

5 Formulär
Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
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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