TTC37 中隐藏的异常转录本会导致三肠管综合征。

IF 2.9 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2024-10-10 DOI:10.1111/cge.14630

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

引用次数: 0

摘要

该患者临床上怀疑自己患上了THES。使用 WES 和 WGS 进行了复杂的基因分析，但未能成功确诊。有必要进一步使用 RNA 和蛋白质进行分子分析，以最终确诊 THES。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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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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来源期刊

Clinical Genetics 医学-遗传学

CiteScore

6.50

自引率

0.00%

发文量

175

审稿时长

3-8 weeks

期刊介绍： Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease