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
- 197 - 201 (5page)
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초록· 키워드
오류제보하기
Campomelic dysplasia (CD) is a rare genetic disease characterized by skeletal dysplasia that also affects several other organ systems. CD is caused by a SOX9 mutation. We here report a case of CD with a 46, XY karyotype and female external genitalia. This child was born with a weight of 3.12 kg after 37 weeks of gestation. She exhibited a number of characteristic features including a small thoracic cage, bowing of both femurs, clubbed feet, hypoplastic scapula, 11 pairs of ribs, a bell-shaped narrow thorax, micrognathia, macroglossia, a cleft palate, a flattened nasal bridge, and low set ears. She experienced additional distress because of the presence of a tracheal ring and because she had tracheomalacia. CD was diagnosed through nucleotide sequence analysis. A frameshift mutation, c.235delC (p.Gln79Argfs*31), was identified in the SOX9 gene that has not previously been reported.
목차
등록된 정보가 없습니다.
참고문헌 (15)
참고문헌 신청
Unger S / Campomelic dysplasia
Mansour S / 1995 / A clinical and genetic study of campomelic dysplasia / J Med Genet 32:415~420
Symon A / 2017 / SOX9 : a genomic view of tissue specific expression and action / Int J Biochem Cell Biol 87:18~22
Foster JW / 1994 / Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene / Nature 372:525~530
Kwok C / 1995 / Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal / Am J Hum Genet 57:1028~1036
Mansour S / 1995 / A clinical and genetic study of campomelic dysplasia / J Med Genet 32:415~420
Symon A / 2017 / SOX9 : a genomic view of tissue specific expression and action / Int J Biochem Cell Biol 87:18~22
Foster JW / 1994 / Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene / Nature 372:525~530
Kwok C / 1995 / Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal / Am J Hum Genet 57:1028~1036
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