A novel antimüllerian gene mutation in a woman with high antral follicle count and extremely low serum antimüllerian hormone levels

• Main Authors: Laura Melado, M.D., Ph.D (Author), Barbara Lawrenz, M.D., Ph.D (Author), Jonalyn Edades, B.S (Author), Ajay Kumar, Ph.D (Author), Human Fatemi, M.D., Ph.D (Author)
• Format: Book
• Published: Elsevier, 2024-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To report a case with a distinct difference between the ovarian reserve parameters of antimüllerian hormone (AMH) levels, antral follicle count (AFC), and follicle-stimulating hormone levels caused by a novel homozygous missense variant in the exon 1 of the AMH gene [NM_000479.4:c259G>...