apr 5, 1964 - Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
Description:
mutation in the DHCR7 gene on chromosome 11q12-13 which reduces the activity of 7-dehydrocholesterol reductase. Rarely there may be a mutation in chromosome 7q32.1.
Added to timeline:
medicine curiosity
Date:
