지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2012.1
- 수록면
- 98 - 100 (3page)
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초록· 키워드
오류제보하기
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 radial-ray, thenar, and carpal bones, and congenital heart malformations including atrial septal defect and ventricular septal defect. It is caused by mutations in the TBX5 gene. In this report, a Korean case with HOS is described, which is inherited from her father. A novel nonsense mutation, $p.Glu294^*$, was identified. This is the first Korean case with HOS confirmed by genetic testing.
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등록된 정보가 없습니다.
참고문헌 (8)
참고문헌 신청
Holt M / 1960 / Familial heart disease with skeletal malformations / Br Heart J 22:236~242
McDermott DA / 2005 / TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome / Pediatr Res 58:981~986
Basson CT / 1997 / Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome / Nat Genet 15:30~35
Kim CH / 1982 / A case of Holt-Oram syndrome / Korean Circ J 12:231~238
Lee JG / 2000 / A case of the Holt-Oram syndrome with unaffected parents diagnosed by antenatal ultrasonography / Korean J Obstet Gynecol 43:2095~2099
McDermott DA / 2005 / TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome / Pediatr Res 58:981~986
Basson CT / 1997 / Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome / Nat Genet 15:30~35
Kim CH / 1982 / A case of Holt-Oram syndrome / Korean Circ J 12:231~238
Lee JG / 2000 / A case of the Holt-Oram syndrome with unaffected parents diagnosed by antenatal ultrasonography / Korean J Obstet Gynecol 43:2095~2099
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