When Rothmund-Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia

Clin Dysmorphol. 2021 Jan;30(1):50-53. doi: 10.1097/MCD.0000000000000332.
No abstract available

MeSH terms

  • Alleles
  • Diagnosis, Differential
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Mutation
  • Neutropenia / diagnosis*
  • Neutropenia / etiology*
  • Phenotype
  • Rothmund-Thomson Syndrome / diagnosis*
  • Rothmund-Thomson Syndrome / etiology*
  • Skin Abnormalities / diagnosis*
  • Skin Abnormalities / etiology*

Supplementary concepts

  • Poikiloderma with Neutropenia