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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 39 - 43 (5page)
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Epidermolysis bullosa simplex (EBS) is a group of inherited skin diseases characterized by intraepidermal blistering upon mild trauma. They are classified into three major types based on the severity and distribution of blisters, age of onset, and histological findings. These three major types are caused by KRT5 and KRT14 gene mutations. EBS Dowling-Meara (DM) is one of the most severe subtypes which mostly affects neonates. Electron microscopy is a primary diagnostic tool for EBS; however, mutation analysis has recently become more important for its diagnosis, prognosis, genetic counselling, and prenatal diagnosis. Several studies have reported that almost all mutations in EBS-DM patients are found in the highly conserved rod domains of the KRT5 and KRT14 genes and have also demonstrated a genotype-phenotype correlation. Here, we report an EBS-DM case diagnosed by mutation analysis in a newborn and a missense mutation not identified in humans previously.
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참고문헌 (12)
참고문헌 신청
Coulombe PA / 1991 / Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients : genetic and functional analyses / Cell 66:1301~1311
Fine JD / 2014 / Inherited epidermolysis bullosa : updated recommendations on diagnosis and classification / J Am Acad Dermatol 70:1103~1126
Wakiguchi H / 2016 / A sporadic neonatal case of epidermolysis bullosa simplex generalized intermediate with KRT5 and KRT14 gene mutations / AJP Rep 6:e108~e111
Müller FB / 2006 / Novel and recurrent mutations in keratin KRT5 and KRT14genes in epidermolysis bullosa simplex : implications for disease phenotype and keratin filament assembly / Hum Mutat 27:719~720
Fine JD / 2008 / The classification of inherited epidermolysis bullosa(EB) : report of the third international consensus meeting on diagnosis and classification of EB / J Am Acad Dermatol 58:931~950
Fine JD / 2014 / Inherited epidermolysis bullosa : updated recommendations on diagnosis and classification / J Am Acad Dermatol 70:1103~1126
Wakiguchi H / 2016 / A sporadic neonatal case of epidermolysis bullosa simplex generalized intermediate with KRT5 and KRT14 gene mutations / AJP Rep 6:e108~e111
Müller FB / 2006 / Novel and recurrent mutations in keratin KRT5 and KRT14genes in epidermolysis bullosa simplex : implications for disease phenotype and keratin filament assembly / Hum Mutat 27:719~720
Fine JD / 2008 / The classification of inherited epidermolysis bullosa(EB) : report of the third international consensus meeting on diagnosis and classification of EB / J Am Acad Dermatol 58:931~950
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