A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene

J Med Genet. 2012 Apr;49(4):246-8. doi: 10.1136/jmedgenet-2012-100783.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Bone and Bones / diagnostic imaging
  • Cataract / diagnosis*
  • Cataract / genetics*
  • Collagen Type XI / genetics*
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics*
  • Facies
  • Genes, Recessive
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Infant
  • Male
  • Mutation*
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / genetics*
  • Phenotype
  • Radiography
  • Sequence Analysis, DNA

Substances

  • COL11A1 protein, human
  • Collagen Type XI

Supplementary concepts

  • Marshall syndrome