Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome

Am J Med Genet. 2000 Oct 23;94(5):383-5. doi: 10.1002/1096-8628(20001023)94:5<383::aid-ajmg7>3.0.co;2-7.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Base Sequence
  • DNA / chemistry
  • DNA / genetics
  • DNA Helicases*
  • DNA Mutational Analysis
  • Face / abnormalities*
  • Family Health
  • Female
  • Genetic Linkage
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Male
  • Nuclear Proteins / genetics
  • Pedigree
  • Point Mutation
  • Syndrome
  • X Chromosome / genetics*
  • X-linked Nuclear Protein
  • alpha-Thalassemia / genetics*
  • alpha-Thalassemia / pathology

Substances

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