Tsutsui, K

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] - The British journal of dermatology Aug 2003 - 395-9 p. digital

Publication Type: Case Reports; Journal Article

0007-0963

10.1046/j.1365-2133.2003.05423.x doi


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