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Identification of a novel TBX5 c.755+1 G > A variant and related pathogenesis in a family with Holt-Oram syndrome

Wang, DG; Dong, XS; Xiong, Y; Li, ZM; Xie, YJ; Liang, SH; Huang, TH

Huang, TH (通讯作者),Shantou Univ, Coll Med, Res Ctr Reprod Med, Shantou, Guangdong, Peoples R China.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (1): 58

Abstract

The proband with congenital heart disease and abnormal thumb was clinically diagnosed as Holt-Oram syndrome (HOS). A novel variant, T-box transcriptio......

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