AEC syndrome caused by heterozygous mutation in the SAM domain of p63 gene

MeSH terms

• Abnormalities, Multiple / diagnosis
• Abnormalities, Multiple / genetics*
• Cleft Lip / diagnosis
• Cleft Lip / genetics*
• Cleft Palate / diagnosis
• Cleft Palate / genetics*
• DNA / genetics*
• DNA Mutational Analysis
• Diagnosis, Differential
• Diseases in Twins
• Eyelids / abnormalities
• Female
• Humans
• Infant, Newborn
• Male
• Membrane Proteins / genetics*
• Monomeric GTP-Binding Proteins / genetics*
• Mutation*
• Pedigree
• Polymerase Chain Reaction
• SAM Domain and HD Domain-Containing Protein 1
• Syndrome