AEC syndrome

ankyloblepharon-ectodermal defects-cleft lip/palate

An autosomal dominant condition (OMIM:106260) characterised by congenital ectodermal dysplasia with sparse coarse and wiry hair, dystrophic nails, slight hypohidrosis, scalp and skin erosion, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia, and cleft lip/palate.
Molecular pathology
Caused by defects of TP63, which encodes a p53 transcription factor that acts as a sequence-specific DNA-binding transcriptional regulator of epithelial morphogenesis and required for limb formation from the apical ectodermal ridge.

单词	aec syndrome
释义	DictionarySeesyndrome AEC syndrome ankyloblepharon-ectodermal defects-cleft lip/palate An autosomal dominant condition (OMIM:106260) characterised by congenital ectodermal dysplasia with sparse coarse and wiry hair, dystrophic nails, slight hypohidrosis, scalp and skin erosion, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia, and cleft lip/palate. Molecular pathology Caused by defects of TP63, which encodes a p53 transcription factor that acts as a sequence-specific DNA-binding transcriptional regulator of epithelial morphogenesis and required for limb formation from the apical ectodermal ridge.
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