A novel p63 sterile alpha motif (SAM) domain mutation in a Japanese patient with ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome without ankyloblepharon. [electronic resource]
Producer: 20031010Description: 395-9 p. digitalISSN:- 0007-0963
- Abnormalities, Multiple -- genetics
- Cleft Lip -- genetics
- Cleft Palate -- genetics
- DNA-Binding Proteins
- Ectodermal Dysplasia -- genetics
- Eyelids -- abnormalities
- Female
- Genes, Tumor Suppressor
- Humans
- Infant, Newborn
- Membrane Proteins
- Mutation
- Phosphoproteins -- genetics
- Syndrome
- Trans-Activators -- genetics
- Transcription Factors
- Tumor Suppressor Proteins
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Publication Type: Case Reports; Journal Article
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