Schöpf-Schulz-Passarge syndrome associated with two new missense mutations in WNT10A

J Dtsch Dermatol Ges. 2018 Jan;16(1):66-69. doi: 10.1111/ddg.13391.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Anodontia / diagnosis
  • Anodontia / genetics*
  • Anodontia / surgery
  • Apocrine Glands / surgery
  • Diagnosis, Differential
  • Eccrine Glands / abnormalities*
  • Eccrine Glands / surgery
  • Eyelid Neoplasms / diagnosis
  • Eyelid Neoplasms / genetics*
  • Eyelid Neoplasms / surgery
  • Female
  • Heterozygote
  • Hidrocystoma / diagnosis
  • Hidrocystoma / genetics
  • Hidrocystoma / surgery
  • Humans
  • Hypotrichosis / diagnosis
  • Hypotrichosis / genetics*
  • Hypotrichosis / surgery
  • Keratoderma, Palmoplantar / diagnosis
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / surgery
  • Middle Aged
  • Mutation, Missense / genetics*
  • Phenotype
  • Sweat Gland Neoplasms / diagnosis
  • Sweat Gland Neoplasms / genetics
  • Sweat Gland Neoplasms / surgery
  • Wnt Proteins / genetics*

Substances

  • WNT10A protein, human
  • Wnt Proteins

Supplementary concepts

  • Schopf-Schulz-Passarge Syndrome