- Metabolite
- HMDB0002027 (8-Dehydrocholesterol)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 0.0754 uM
- Age
- Children (1-13 years old)
- Sex
- Male
- Condition
- Chondrodysplasia punctata, X-linked dominant
References
- Aughton DJ, Kelley RI, Metzenberg A, Pureza V, Pauli RM: X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male. Am J Med Genet A. 2003 Jan 30;116A(3):255-60. doi: 10.1002/ajmg.a.10852. [PubMed:12503102 ]