Article

Microhomology-Mediated End Joining as a Novel Mechanism Underlying Androgen Insensitivity Syndrome

2025-06-26

Abstract excerpt

<h4>Significance Statement</h4> This study identifies microhomology-mediated end joining (MMEJ) as a novel mutational mechanism underlying a pathogenic deletion in the androgen receptor gene in a patient with complete androgen insensitivity syndrome. By mapping the genomic breakpoint at the nucleotide level, we demonstrate the presence of canonical features of MMEJ, thereby expanding the known mechanisms of genomi...

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Literature Corpus work: e41a793a-1838-5b23-b0f0-acfafc42d585
DOI: 10.1101/2025.06.24.25330003

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