Analysis of common genetic mutations in a cohort of children with salt wasting form of Congenital Adrenal Hyperplasia
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DOI: 10.4038/cmj.v65i4.9280
Abstract: Introduction: Steroid hydroxylase deficiency due to CYP21A2 gene mutation is the most common cause of Congenital Adrenal Hyperplasia (CAH). Mutation spectrum in Sri Lankan CAH patients has not been investigated adequately. Objectives: This study attempted… read more here.
Keywords: mutation; salt wasting; gene; adrenal hyperplasia ... See more keywords