5 abr 1964 ano - Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
Descrição:
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.
Adicionado na linha do tempo:
Data: