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Updated: Jun 17, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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患有甲状腺失调和DUOX2变体的患者:分子和临床描述和基因型-表型相关性

Noelia Baz-Redón1,2, María Antolín3,4, María Clemente1,2,5,6

  • 1Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.

International journal of molecular sciences
|August 10, 2024
PubMed
概括

在DUOX2的遗传变异导致甲状腺失调激素生成 (THD),导致先天性甲状腺功能低下症. 这项研究描述了患者中的DUOX2变异,发现了新的突变,并强调需要进行功能研究来确认致病性.

关键词:
CH CH CH CH 这是一个很好的例子.在 DUOX2 中,我们可以使用 DUOX2 .出生性甲状腺功能低下症.双氧化酶 2 2 的作用.现型变异性的变化.甲状腺激素的产生.

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