Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome

Am J Med Genet. 2000 Mar 6;91(1):83-5.
No abstract available

Publication types

  • Letter
  • Comment

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Base Sequence
  • DNA / chemistry
  • DNA / genetics
  • DNA Helicases*
  • DNA Mutational Analysis
  • Face / abnormalities
  • Family Health
  • Female
  • Frameshift Mutation
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Microcephaly / genetics
  • Mutation
  • Nuclear Proteins / genetics*
  • Pedigree
  • Point Mutation
  • Sequence Deletion
  • Sequence Homology, Nucleic Acid
  • Syndrome
  • X-linked Nuclear Protein

Substances

  • Nuclear Proteins
  • DNA
  • DNA Helicases
  • ATRX protein, human
  • X-linked Nuclear Protein