5 avr. 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.Ajouté au bande de temps:
Date:
5 avr. 1964
Maintenaint
~ Il y a 61 ans