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患有ATAD3A变异的患者的临床和变异谱

Hongfang Mei1,2, Xinyin Zhang2,3, Taixiang Liu1,2

  • 1Department of Neonatal Intensive Care Unit, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

Translational pediatrics
|August 13, 2025
PubMed
概括

ATAD3A变种可能导致呼吸链缺陷和各种临床特征. ATAD3A变异的严重程度和类型显著影响患者的结果和临床表现,需要遗传咨询.

关键词:
ATAD3A ATAD3A ATAD3A 是一个基因型 基因型 基因型现象型 现象型 是一种现象型.

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