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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:

Data:

5 apr 1964 anni
Adesso
~ 61 years ago