A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency

Montserrat Lara-Velazquez, Alexander Perdomo-Pantoja, Patrick R. Blackburn, Jennifer M. Gass, Thomas Caulfield, Paldeep S. Atwal

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4 Scopus citations

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Medicine & Life Sciences