Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome

J Med Genet. 2002 Nov;39(11):838-43. doi: 10.1136/jmg.39.11.838.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Adult
  • Ataxia / pathology
  • Cataract / congenital
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 18 / genetics*
  • Diagnosis, Differential
  • Face / abnormalities
  • Family Health
  • Female
  • Genetic Linkage
  • Growth Disorders / pathology
  • Humans
  • Male
  • Microsatellite Repeats
  • Nervous System Diseases / pathology
  • Pedigree
  • Psychomotor Disorders / pathology
  • Syndrome

Associated data

  • OMIM/248800
  • OMIM/604168