Article
Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS).
Hormones (Athens, Greece) - 1 Jun 2023
Monteiro Ana, Pavithran Praveen V, Puthukulangara Manuprasad, Bhavani Nisha, Nampoothiri Sheela, Yesodharan Dhanya, Kumaran Reshma
Abstract excerpt
PURPOSE: Genotyping of classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is becoming increasingly significant beyond prenatal counseling in the current era of emerging gene therapy/editing technologies. While the knowledge of common variants helps in designing cost-effective genotyping strategies, limited data are currently available from the Indian subcontinent, especially...
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