| AEC syndrome caused by a novel p63 mutation and demonstrating erythroderma followed by extensive depigmentation. | |
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MedLine Citation:
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PMID: 19840326 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present an infant with AEC syndrome due to a novel TP63 mutation (F552S), who demonstrated neonatal erythroderma followed by extensive depigmentation. We are unaware of previous reports highlighting the extensive depigmentation present in our patient. |
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Authors:
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David R Berk; Kimberly Crone; Susan J Bayliss |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric dermatology Volume: 26 ISSN: 1525-1470 ISO Abbreviation: Pediatr Dermatol Publication Date: 2009 Sep-Oct |
Date Detail:
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Created Date: 2009-10-20 Completed Date: 2010-01-14 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8406799 Medline TA: Pediatr Dermatol Country: United States |
Other Details:
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Languages: eng Pagination: 617-8 Citation Subset: IM |
Affiliation:
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Division of Dermatology, Department of Internal Medicine, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri 63110, USA. dberk@im.wustl.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Cleft Palate / genetics Dermatitis, Exfoliative / genetics* Ectodermal Dysplasia / genetics* Female Humans Hypopigmentation / genetics* Infant, Newborn Point Mutation Syndrome Trans-Activators / genetics* Tumor Suppressor Proteins / genetics* |
| Chemical | |
Reg. No./Substance:
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0/TP63 protein, human; 0/Trans-Activators; 0/Tumor Suppressor Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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