Gillespie et al., 2014 - Mild elevations of 7-DHC in Lanosterol C14-Demethylase (CYP51A1) a condition associated with isolated or syndromic cataracts
der Velden, et al. 2008 - Cerebrotendinous xanthomatosis with elevated 7-DHC
Witsch-Baumgartner et al., 2000 - Correlation between DHC levels and severity of Smith Lemli Opitz syndrome