5 apr 1964 anni - Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
Descrizione:
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.
Aggiunto al nastro di tempo:
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