Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia

Am J Med Genet A. 2010 Jun;152A(6):1347-8. doi: 10.1002/ajmg.a.33455.
No abstract available

MeSH terms

  • Chromosomes, Human, Pair 16 / genetics*
  • DNA Mutational Analysis
  • Gene Deletion*
  • Genetic Linkage
  • Humans
  • Lod Score
  • Neutropenia / diagnosis
  • Neutropenia / genetics*
  • Open Reading Frames / genetics
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Rothmund-Thomson Syndrome / diagnosis
  • Rothmund-Thomson Syndrome / genetics*