TBX22,-

Kamerin Smith1,2, Michael A Abruzzo3, Robert P Erickson4

  • 1Health Science Center at Fort Worth, The University of North Texas, Fort Worth, Texas, USA.

概括

在T-Box转录因子22基因 (TBX22) 中的致病变异会导致阿布鲁佐-埃里克森综合征 (ABERS). 这项研究发现,在两个具有不同TBX22变异的家族中,存在重叠的表型,这表明功能获取突变导致ABERS.

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