A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency
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DOI: 10.1002/mgg3.322
Abstract: The CYP11A1 gene encodes the cytochrome P450 side‐chain cleavage enzyme, which is essential for steroid formation. Recessive variants in this gene can lead to impairment of sexual differentiation caused by a complete or partial loss… read more here.
Keywords: cyp11a1 trans; variant cyp11a1; cyp11a1; splice site ... See more keywords