Gene analysis associated with short stature and growth hormone responsiveness
Not Applicable
- Conditions
- famirial short stature, idopathic short stature, Noonan syndrome, and good/poor respoders of growth hormone therapy
- Registration Number
- JPRN-UMIN000000529
- Lead Sponsor
- Keio University, School of Medicine
- Brief Summary
We identified heterozygous NPR2 mutations in 2% of Japanese patients with short stature. Our in vitro findings indicate that NPR2 mutations have a dominant negative effect, and their dominant-negative mechanisms vary corresponding to the molecular pathogenesis of the mutations. (J Clin Endocrinol Metab 99: E713, 2014)
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Complete: follow-up complete
- Sex
- All
- Target Recruitment
- 100
Inclusion Criteria
Not provided
Exclusion Criteria
none
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method gene analysis and functional assay
- Secondary Outcome Measures
Name Time Method