Emmanuèle C. Délot

Leveraging Long-Read Sequencing to Bridge the Diagnostic and Equity Gaps in Differences of Sex Development (DSD).

Congenital Adrenal Hyperplasia (CAH) can result from variants in several genes but is most frequently caused by deletions and gene conversions in the segmentally duplicated RCCX module, which contains the CYP21A2 gene and its pseudogene. Current genetic tests vary greatly by laboratory, method, and consequently diagnos...