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Hidden Aberrant Transcripts in TTC37 Cause Trichohepatoenteric Syndrome.

Clinical genetics - 1 Jan 2025

da Silva Franco José Francisco, Neves Raquel Leão, Menezes Alef Nascimento, Nogueira Beatriz Ribeiro, Gomes Caio Perez, Pesquero João Bosco

Abstract excerpt

The patient had clinical suspicion of THES. Complex genetic analyzes using WES, WGS were performed without success in the diagnosis. Further molecular analyzes using RNA and protein was necessary to reach the final correct THES diagnosis.

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PMID: 39390792
DOI: 10.1111/cge.14630

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