Intronic Germline <i>DICER1</i> Variants in Patients With Sertoli-Leydig Cell Tumor
Claudette R. Fraire, Paige R. Mallinger, Jessica N. Hatton, Jung Kim, David S. Dickens, Peter A. Argenta, Samuel Milanovich, Taylor Hartshorne, David J. Carey, Jeremy S. Haley, G Urban, Jeon Lee, D. Ashley Hill, Douglas R. Stewart, Kris Ann P. Schultz, Kenneth Chen
Abstract
pLOF variants or large deletions are discovered in exonic regions despite strong clinical suspicion, intron sequencing and splicing analysis should be performed.
Topics & Concepts
GermlineBiologyGeneticsIntronGeneLeydig cellGermline mutationSertoli cellMutationLuteinizing hormoneHormoneEndocrinologySpermatogenesisCongenital Diaphragmatic Hernia StudiesCongenital heart defects researchTesticular diseases and treatments