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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

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  • An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27.
database_cross_reference
  • url:https://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome
  • url:https://www.ncbi.nlm.nih.gov/pubmed/29339502
  • url:https://www.ncbi.nlm.nih.gov/pubmed/29956718
  • url:https://www.omim.org/entry/106260
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