지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 192 - 196 (5page)
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초록· 키워드
오류제보하기
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplastic disease associated with mutations in the gene encoding the Runt-related transcription factor 2 (RUNX2). CCD is characterized by hypoplastic clavicles and patent cranial sutures. Management is essential to prevent complications during growth of the patient. Herein, we report a sporadic case of an infant with hypoplastic skull and clavicles at birth, which correlated with clinical findings of CCD. A heterozygous mutation was identified in the RUNX2 gene, which confirmed the diagnosis of CCD.
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등록된 정보가 없습니다.
참고문헌 (16)
참고문헌 신청
Marie P / 1898 / Sur la dysostose cleido-cranienne herediataire / Rev Neurol 6:835~838
Machol K / Cleidocranial dysplasia spectrum disorder
Mundlos S / 1997 / Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia / Cell 89:773~779
Mundlos S / 1999 / Cleidocranial dysplasia : clinical and molecular genetics / J Med Genet 36:177~182
Hamner LH 3rd / 1994 / Prenatal diagnosis of cleidocranial dysostosis / Obstet Gynecol 83(5 Pt 2):856~857
Machol K / Cleidocranial dysplasia spectrum disorder
Mundlos S / 1997 / Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia / Cell 89:773~779
Mundlos S / 1999 / Cleidocranial dysplasia : clinical and molecular genetics / J Med Genet 36:177~182
Hamner LH 3rd / 1994 / Prenatal diagnosis of cleidocranial dysostosis / Obstet Gynecol 83(5 Pt 2):856~857
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