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

Jacquart, Amanda; Schilter, Kala F; Udani, Rupa; Evans, Douglas; Carroll, Ty B; Reddi, Honey V

Jacquart, Amanda; Schilter, Kala F; Udani, Rupa; Evans, Douglas; Carroll, Ty B; Reddi, Honey V.

Afiliación

Jacquart A; Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
Schilter KF; Precision Medicine Laboratory, Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
Udani R; Precision Medicine Laboratory, Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
Evans D; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
Carroll TB; Department of Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
Reddi HV; Department of Medicine, Division of Endocrinology and Molecular Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.

Clin Genet ; 104(1): 139-141, 2023 07.

Article en En | MEDLINE | ID: mdl-36840469

Asunto(s)

Neoplasia Endocrina Múltiple Tipo 1; Humanos; Pruebas Genéticas; Mosaicismo; Neoplasia Endocrina Múltiple Tipo 1/genética; Neoplasia Endocrina Múltiple Tipo 1/patología; Mutación/genética; Masculino; Persona de Mediana Edad

Palabras clave

MEN1; constitutional mosaicism; genetic testing; multiple endocrine neoplasia

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasia Endocrina Múltiple Tipo 1 Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans / Male / Middle aged Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Dinamarca

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