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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
- 2018.1
- 수록면
- 884 - 887 (4page)
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초록· 키워드
오류제보하기
We report a female proband carrying a de novo 5q34-q35.2 deletion breakpoint, and review the unique skeletal phenotype and possible genotype related to this mutation. The patient presented with a persistent head tilt and limited head rotation. Non-contrast-enhanced three-dimensional computed tomography of the cervical spine revealed several malformations including a bone cleft in the right pars interarticularis, a bone defect in both C5 lamina and the transverse foramen at C2–C3, agenesis of the right articular process of C5, bony fusion of C4–C5, and subluxation of the craniocervical joints. Several deformities of the cervical spine seen in this patient have not been associated with the 5q deletion. A review of 5q-related mutations suggests that abnormalities associated with MSX2 gene might cause cervical spine abnormalities.
목차
등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Baekvad-Hansen M / 2006 / Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease / Am J Med Genet A 140:427~433
Reynisdottir I / 2003 / Localization of a susceptibility gene for type 2 diabetes to chromosome 5q34-q35.2 / Am J Hum Genet 73:323~335
Rauch A / 2003 / A novel 5q35.3 subtelomeric deletion syndrome / Am J Med Genet A 121:1~8
Schafer IA / 2001 / Distal 5q deletion syndrome: phenotypic correlations / Am J Med Genet 103:63~68
Aftimos S / 2010 / Distal 5q deletion with associated parietal foramina / Clin Dysmorphol 19:43~47
Reynisdottir I / 2003 / Localization of a susceptibility gene for type 2 diabetes to chromosome 5q34-q35.2 / Am J Hum Genet 73:323~335
Rauch A / 2003 / A novel 5q35.3 subtelomeric deletion syndrome / Am J Med Genet A 121:1~8
Schafer IA / 2001 / Distal 5q deletion syndrome: phenotypic correlations / Am J Med Genet 103:63~68
Aftimos S / 2010 / Distal 5q deletion with associated parietal foramina / Clin Dysmorphol 19:43~47
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