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Article

RET 634 germline/gonadal mosaicism generating a second pathogenic amino acid change in multiple endocrine neoplasia type 2A.

American journal of medical genetics. Part A - 1 Jul 2024

Valente Flávia O F, Camacho Cléber P, Lindsey Susan C, Yang Ji H, Kunii Ilda S, Santos Roberto B, Kizys Marina M L, Cerutti Janete M, Dias-da-Silva Magnus R, Maciel Rui M B

Abstract excerpt

Genetic testing for germline RET pathogenic variants, which cause the Multiple Endocrine Neoplasia Type 2 (MEN2) syndrome, has become crucial in managing patients with medullary thyroid carcinoma (MTC). Classically, RET heterozygous missense pathogenic variants are transmitted in a Mendelian autosomal dominant pattern, of which germline/gonadal mosaicism has never been reported. We report the novel occurrence of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38407483
DOI: 10.1002/ajmg.a.63576

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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