Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1

Clin Dysmorphol. 2016 Apr;25(2):68-72. doi: 10.1097/MCD.0000000000000110.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • DNA Mutational Analysis
  • Dwarfism / diagnosis*
  • Dwarfism / genetics*
  • Facies
  • Fetal Growth Retardation / diagnosis*
  • Fetal Growth Retardation / genetics*
  • Genotype
  • Humans
  • Male
  • Microcephaly / diagnosis*
  • Microcephaly / genetics*
  • Mutation*
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / genetics*
  • Phenotype*
  • RNA, Small Nuclear / genetics*
  • Siblings*
  • Young Adult

Substances

  • RNA, Small Nuclear
  • RNU4ATAC RNA, human

Supplementary concepts

  • Microcephalic osteodysplastic primordial dwarfism, type 1