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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 503 - 506 (4page)
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초록· 키워드
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Dear Editor, CHARGE syndrome (CS; OMIM 214800) is a rare genetic disease encompassing multiple developmental anomalies, with an estimated incidence of 1:8,500–12,000 live births [1]. Diagnosis of CS relies on combinations of well-defined clinical features grouped into major and minor criteria (Table 1) [2]. The absence of one functional allele of CHD7 is responsible for 60–70% of CS cases [3]. CS cases are very rarely linked to alterations in other genes, such as EFTUD2 (OMIM 603892) [4]. CHD7 is one of the largest human genes, with a size of 188 kb, encompassing 38 exons. As a large-scale mutation scanning strategy, targeted gene panel sequencing has become the most straightforward approach.
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참고문헌 (10)
참고문헌 신청
Issekutz KA / 2005 / An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study / Am J Med Genet A 133A:309~317
Hale CL / 2016 / Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria / Am J Med Genet Part A 170A:344~354
Vissers LE / 2004 / Mutations in a new member of the chromodomain gene family cause CHARGE syndrome / Nat Genet 36:955~957
Legendre M / 2017 / Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome / Am J Med Genet 175:417~430
Pramudita J / 2017 / CHARGE syndrome : an Indonesian case report / J Biomed Transl Res 1:23~25
Hale CL / 2016 / Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria / Am J Med Genet Part A 170A:344~354
Vissers LE / 2004 / Mutations in a new member of the chromodomain gene family cause CHARGE syndrome / Nat Genet 36:955~957
Legendre M / 2017 / Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome / Am J Med Genet 175:417~430
Pramudita J / 2017 / CHARGE syndrome : an Indonesian case report / J Biomed Transl Res 1:23~25
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