- A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation
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Lee BH, Kim YM, Kim GH, Kim YH, Yoo HW
- KMID: 1428902
- J Genet Med.
- 2012 Dec;9(2):98-100.
- doi: 10.5734/JGM.2012.9.2.98
Holt-Oram syndrome (HOS) is the most common heart-hand syndrome, which is inherited in an autosomal dominant manner, but most cases are sporadic. This condition is characterized by upper-extremity malformations involving... -
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- Prenatal diagnosis of thrombocytopenia-absent radius syndrome using three-dimensional ultrasound
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We JS, Park IY, Kim MS, Shin JC
- KMID: 2273458
- Korean J Obstet Gynecol.
- 2008 Jun;51(6):665-669.
We describe a case of thrombocytopenia-absent radius syndrome suspected by ultrasonography, later confirmed by fetal blood analysis. From this case we confirmed the usefulness of three-dimensional ultrasonography in diagnosing abnormalities... -
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