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KMID : 0363220110490030274
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Korean Journal of Dermatology
2011 Volume.49 No. 3 p.274 ~ p.278
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Ankyloblepharon, Ectodermal Defects, and Cleft Lip and Palate Syndrome Associated with TP63 Gene Mutation
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Song Ki-Hoon
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Abstract
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Ankyloblepharon, Ectodermal defects, and Cleft lip and palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare form of ectodermal dysplasia initially described by Hay and Wells in 1976. It is an autosomal dominant disorder caused by mutations in the gene encoding the TP63 transcription factor, specifically in the Sterile Alpha Motif (SAM) domain. It is characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or cleft palate. To our knowledge, no case of AEC syndrome associated with a TP63 gene mutation has ever been published in Korea. Herein, we present a Korean female infant with AEC syndrome due to a novel TP63 gene mutation.
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KEYWORD
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AEC syndrome, TP63 gene
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