Ankyloblepharon–ectodermal dysplasia–clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work
Author:
Affiliation:
1. Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China
Publisher
Wiley
Subject
Dermatology,General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.14837
Reference11 articles.
1. The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition
2. Skin Erosions and Wound Healing in Ankyloblepharon–Ectodermal Defect–Cleft Lip and/or Palate
3. p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome
4. Scalp Erosion in Ankyloblepharon-Ectodermal Defect-Cleft Lip and/or Palate (AEC Syndrome)
5. Modeling AEC-New approaches to study rare genetic disorders
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2. A spectrum of TP63-related disorders with eight affected individuals in five unrelated families;European Journal of Medical Genetics;2024-04
3. Molecular Modeling Analysis Provides Genotype–Phenotype Correlation Insights in a Patient with Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome;Genes;2023-06-10
4. Proposal for a 6‐step approach for differential diagnosis of neonatal erythroderma;Journal of the European Academy of Dermatology and Venereology;2022-03-15
5. Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up;Italian Journal of Pediatrics;2021-09-28
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