A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders

Acta Derm Venereol. 2019 Jan 1;99(1):111-112. doi: 10.2340/00015555-2997.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Choanal Atresia / diagnosis
  • Choanal Atresia / genetics*
  • Cleft Lip / diagnosis
  • Cleft Lip / genetics*
  • Cleft Palate / diagnosis
  • Cleft Palate / genetics*
  • DNA Mutational Analysis
  • Ectodermal Dysplasia / diagnosis
  • Ectodermal Dysplasia / genetics*
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics*
  • Eyelids / abnormalities*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Infant, Newborn
  • Mutation*
  • Phenotype
  • Skin / pathology*
  • Skin Diseases / diagnosis
  • Skin Diseases / genetics*
  • Transcription Factors / genetics*
  • Tumor Suppressor Proteins / genetics*

Substances

  • TP63 protein, human
  • Transcription Factors
  • Tumor Suppressor Proteins

Supplementary concepts

  • Hay-Wells syndrome