Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.

Qizong Lao Deepika D'Cunha Burkardt Sarah Kollender Fabio Rueda Faucz Deborah P Merke

Published in: Molecular genetics & genomic medicine (2023)

These two variant alleles further document the complex nature of RCCX modules and highlight that not all CYP21A1P/CYP21A2 chimera severely impair 21OH activity.

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