Carpenter-Waziri syndrome results from a mutation in XNP

Am J Med Genet. 1999 Jul 30;85(3):249-51. doi: 10.1002/(sici)1096-8628(19990730)85:3<249::aid-ajmg12>3.0.co;2-u.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • DNA Helicases / genetics*
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation, Missense
  • Nuclear Proteins / genetics*
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • Syndrome
  • X-linked Nuclear Protein
  • alpha-Thalassemia / genetics

Substances

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