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Updated: Jun 13, 2025

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在MCT8缺陷中具有SLC16A2变异个体的表型谱

Kirsty McWalter1, Houda Zghal Elloumi1, Richard Sidlow2

  • 1GeneDx LLC, Gaithersburg, MD, USA.

HGG advances
|May 15, 2025
PubMed
概括

由SLC16A2基因变异引起的单碳酸盐运输体8 (MCT8) 缺乏影响甲状腺激素运输. 标准化的HPO术语有助于描述这种罕见的X链状况及其基因型-表型相关性.

关键词:
在AHDS中,我们可以使用AHDS.艾伦·赫伦顿·达德利综合征 艾伦·赫伦顿·达德利综合征在 HPO HPO 中.人类现象型本体学这是一个MCT8缺陷.临床遗传学 临床遗传学外基因组测序是指外基因组的测序.基因型-表型 基因型-表型罕见疾病是一种罕见的疾病.甲状腺激素是甲状腺激素的一种.

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