Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2

Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2

CYP21A2 deficiency represents 95% of congenital adrenal hyperplasia (CAH) cases, a group of genetic disorders that affect steroid biosynthesis. The genetic and functional analysis provide critical tools to elucidate complex CAH cases. One of the most accessible tools to infer the pathogenicity of ne...

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Main Authors: Mayara J. Prado (Author), Rodrigo Ligabue-Braun (Author), Arnaldo Zaha (Author), Maria Lucia Rosa Rossetti (Author), Amit V. Pandey (Author)
Format: Book
Published: Frontiers Media S.A., 2022-10-01T00:00:00Z.
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