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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 192 - 196 (5page)
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초록· 키워드
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Ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia. It is caused by mutations in p63 gene. Six isoforms are generated from the TP63 gene mutation and the main isoform expressed in postnatal skin is Np63a, which functions as a key regulator of epidermal integrity. We have experienced a 1-day-old female baby with skin erosions, ankyloblepharosis, and cleft palate that require treatment for skin care and feeding difficulties. Missense mutation in TP63 1657th T → A transition was found in the genetic test performed in the patient, and this genotype has not been reported in a previously variant. The patient was found dead at 91days of birth and the cause of death was estimated by aspiration.
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참고문헌 (18)
참고문헌 신청
Clements SE / 2012 / Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology / Br J Dermatol 167
Eisenkraft A / 2015 / Clinical variability in a family with an Ectodermal Dysplasia Syndrome and a nonsense mutation in the TP63 gene / Fetal Pediatr Pathol 34 : 400 ~ 406
Eisenkraft A / 2015 / Clinical variability in a family with an ectodermal dysplasia syndrome and a nonsense mutation in the TP63 gene / Fetal Pediatr Pathol 34 : 400 ~ 406
Fete M / 2009 / International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC)syndrome / Am J Med Genet A 149A : 1885 ~ 1893
Gripp KW / 2013 / Exome analysis in clinical practice:expanding the phenotype of Bartsocas-Papas syndrome / Am J Med Genet A 161A : 1058 ~ 1063
Eisenkraft A / 2015 / Clinical variability in a family with an Ectodermal Dysplasia Syndrome and a nonsense mutation in the TP63 gene / Fetal Pediatr Pathol 34 : 400 ~ 406
Eisenkraft A / 2015 / Clinical variability in a family with an ectodermal dysplasia syndrome and a nonsense mutation in the TP63 gene / Fetal Pediatr Pathol 34 : 400 ~ 406
Fete M / 2009 / International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC)syndrome / Am J Med Genet A 149A : 1885 ~ 1893
Gripp KW / 2013 / Exome analysis in clinical practice:expanding the phenotype of Bartsocas-Papas syndrome / Am J Med Genet A 161A : 1058 ~ 1063
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