Hidden Aberrant Transcripts in TTC37 Cause Trichohepatoenteric Syndrome

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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Bibliographic Details
Published in:Clinical genetics 2025-01, Vol.107 (1), p.113-114
Main Authors: Silva Franco, José Francisco, Neves, Raquel Leão, Menezes, Alef Nascimento, Nogueira, Beatriz Ribeiro, Gomes, Caio Perez, Pesquero, João Bosco
Format: Article
Language:English
Subjects:
Diagnosis
Diarrhea, Infantile - genetics
Facies
Female
Fetal Growth Retardation - genetics
Hair Diseases - diagnosis
Hair Diseases - genetics
Humans
Male
Mutation
RNA
syndromic diarrhea
trichohepatoenteric syndrome
WES
WGS
Citations: Items that this one cites
Online Access:Get full text
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Description
Summary: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.
ISSN:0009-9163
1399-0004
1399-0004
DOI:10.1111/cge.14630