Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I syndrome

Clin Genet. 2023 Jul;104(1):139-141. doi: 10.1111/cge.14314. Epub 2023 Feb 28.

Amanda Jacquart¹, Kala F Schilter², Rupa Udani^{2

3}, Douglas Evans⁴, Ty B Carroll⁵, Honey V Reddi^{2

4}

¹ Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
² Precision Medicine Laboratory, Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
³ Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
⁴ Department of Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
⁵ Department of Medicine, Division of Endocrinology and Molecular Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.

No abstract available

Keywords: MEN1; constitutional mosaicism; genetic testing; multiple endocrine neoplasia.

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