- 영문명
- 발행기관
- 대한의학유전학회
- 저자명
- Shin-Young Yim
- 간행물 정보
- 『대한의학유전학회지』제18권 제2호, 94~100쪽, 전체 7쪽
- 주제분류
- 의약학 > 기타의약학
- 파일형태
- 발행일자
- 2021.12.31
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국문 초록
영문 초록
Early onset scoliosis (EOS) describes the onset of scoliosis before the age of 10 years and is associated with significant health risks. Compared to adolescent idiopathic scoliosis, studies on the etiology of EOS in children are more common. EOS in-cludes inhomogeneous groups of patients, and the etiology of EOS may be congenital, neuromuscular, syndromic, or idio-pathic. The identification of the molecular etiology underlying patients with EOS has been increasing. This could provide valuable information for optimizing the management and care of these children. In this review, EOS was reviewed from a medical genomic perspective.
목차
Introduction
Congenital Scoliosis
T-box Transcription Factor 6-associated Con-genital Scolios
EOS in Syndromes
EOS in Neuromuscular Diseases
Conclusion
References
해당간행물 수록 논문
- A neonate with Say-Barber-Biesecker-Young-Simpson syndrome with a novel pathogenic mutation in KAT6B gene: A case report
- A rare, likely pathogenic GCK variant related to maturity-onset diabetes of the young type 2: A case report
- Prenatal detection of Xq deletion by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis: A case report
- A patient with multiple arterial stenosis diagnosed with Alagille syndrome: A case report
- Analyzing clinical and genetic aspects of axonal Charcot-Marie-Tooth disease
- Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14
- Medical genomic approach to early-onset scoliosis
- A female patient with Xp21 gene deletion syndrome
- Effective ketogenic diet in CACNA1A-related ‘epilepsy of infancy with migrating focal seizures’
- A case of follow-up of a patient with 22q11.2 distal deletion syndrome and a review of the literature
- Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling
- Progress, challenges, and future perspectives in genetic researches of stuttering
- Pediatric tetrasomy 18p presenting as a spastic cerebral palsy: A case report
참고문헌
관련논문
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