Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome
Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome
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United States: National Academy of Sciences
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Language
English
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Publisher
United States: National Academy of Sciences
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Contents
The p63 gene encodes amaster regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the C-terminal domain of the p63 gene can cause ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, a life-threatening disorder characterized by skin fragility and severe, long-lasting skin erosions. Despite de...
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Full title
Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5798343
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5798343
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.1713773115
