European journal of human genetics : EJHG
Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.
Dorte Launholt Lildballe, Morten Reiffenstein Huno, Lukas Ochsner Reynaud Ridder, Camilla Mains Balle, Simon Opstrup Drue, Agnethe Berglund, Morten Dunø, Ebbe Norskov Bak, Mette Hansen Viuff, Laura Skak Rasmussen, Claus Højbjerg Gravholt
Published: 202610.1038/s41431-026-02019-8
Abstract
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, commonly caused by variants in CYP21A2 (chr6p21.33), which encodes the 21-hydroxylase enzyme. Genetic diagnosis is challenging due to the high homology between CYP21A2 and its n…
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