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在最初呈现几十年后诊断出巴拉卡特综合征

Umberto Spennato1, Jennifer Siegwart1, Britta Hartmann2

  • 1Medical University Clinic, Division of Endocrinology, Diabetes, and Metabolism, Cantonal Hospital Aarau, Switzerland.

Endocrinology, diabetes & metabolism case reports
|December 20, 2023
PubMed
概括

巴拉卡特综合征 (HDR综合征) 是一种罕见的遗传疾病,其特征是缺甲状腺症,聋和病. 基因分析发现了GATA3变异,证实了诊断,并强调了考虑罕见遗传疾病的重要性.

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