학술논문
A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation
이용수 10
- 영문명
- 발행기관
- 대한의학유전학회
- 저자명
- Hyun-Jin Kim Beom-Hee Lee Yoo-Mi Kim Gu-Hwan Kim Ok-Hwa Kim Han-Wook Yoo
- 간행물 정보
- 『대한의학유전학회지』제9권 제1호, 31~34쪽, 전체 4쪽
- 주제분류
- 의약학 > 기타의약학
- 파일형태
- 발행일자
- 2012.09.01
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국문 초록
영문 초록
Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked skeletal dysplasia. Patients show disproportionate short stature with short trunk and barrel-shaped chest, which usually become pronounced in late childhood. The radiologic findings are characterized by narrow intervertebral disc spaces and moderate epiphyseal dysplasia of long bones. Here we report a case of SEDT with a novel frameshift mutation in TRAPPC2, the disease-causing gene of SEDT. This is the first Korean report with SEDT confirmed by genetic testing.
목차
Introduction
Case Report
Discussion
Acknowledgement
References
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- Analysis of Parental Decisions Based on Sex Chromosome Abnormalities Detected Prenatally
- Application of Hot Start PCR Method in PCR-based Preimplantation Genetic Diagnosis
- A Case with Emanuel Syndrome Resulting from a Maternal Balanced Translocation
- A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation
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