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[Multiple endocrine neoplasia and very early onset inflammatory bowel disease. An unexpected association].

Medicina - 1 Jan 2024

Rossi Santiago I, Baleani Silvia, Prado Ximena, Pascual Carolina, Tennina Cecilia, Malagrino Pablo, Vieites Ana, Parra Alejandro, Cazalla Mario, Castano Jair Tenorio, Lapunzina Pablo

Abstract excerpt

Very early onset inflammatory bowel disease (VEOIBD) is a rare entity in pediatrics. Its association with primary immunodeficiencies of monogenic origin is known. We present the case of a patient diagnosed with VEOIBD who underwent massive paralleled exome sequencing. The result of the study showed a pathogenic variant in the RET proto-oncogene, associated with multiple endocrine neoplasia type 2A disease. There...

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PMID: 38683522

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