Marshall syndrome and a defect at the COL11A1 locus

Am J Hum Genet. 1998 Nov;63(5):1558-61. doi: 10.1086/302110.
No abstract available

Publication types

  • Letter

MeSH terms

  • Alternative Splicing
  • Collagen / genetics*
  • Craniofacial Abnormalities / genetics*
  • Female
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Syndrome

Substances

  • Collagen