Article

Familial medullary thyroid carcinoma secondary to an <i>SLC30A9</i> intragenic deletion and translation reinitiation

2026-02-27

Abstract excerpt

While most individuals with familial medullary thyroid carcinoma (fMTC) carry RET mutations, in some instances the causative mutations remain unknown. We studied two related families with RET -negative fMTC in 21 affected individuals through linkage analysis, exome/genome sequencing, and high-density array comparative genomic hybridization. We identified a novel heterozygous 40kb intragenic SLC30A9 deletion whi...

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Literature Corpus work: 69d3f9a4-0d6f-5ff8-a369-c3ac81439a58
DOI: 10.64898/2026.02.26.26346165

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