Schöpf-Schulz-Passarge Syndrome: Previously Unreported WNT10A Genotype and Phenotypes in 9 Family Members

Acta Derm Venereol. 2019 Jan 1;99(1):113-114. doi: 10.2340/00015555-3055.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anodontia / diagnosis
  • Anodontia / genetics*
  • Anodontia / physiopathology
  • Child
  • DNA Mutational Analysis
  • Eccrine Glands / abnormalities*
  • Eccrine Glands / physiopathology
  • Eyelid Neoplasms / diagnosis
  • Eyelid Neoplasms / genetics*
  • Eyelid Neoplasms / physiopathology
  • Female
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Hypotrichosis / diagnosis
  • Hypotrichosis / genetics*
  • Hypotrichosis / physiopathology
  • Keratoderma, Palmoplantar / diagnosis
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / physiopathology
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Phenotype
  • Wnt Proteins / genetics*

Substances

  • WNT10A protein, human
  • Wnt Proteins

Supplementary concepts

  • Schopf-Schulz-Passarge Syndrome