Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance

Chin Med J (Engl). 2021 Mar 23;134(11):1359-1361. doi: 10.1097/CM9.0000000000001406.
No abstract available

MeSH terms

  • Dwarfism*
  • Eye Diseases, Hereditary
  • Fibrillin-1 / genetics
  • Humans
  • Mutation / genetics
  • Pedigree
  • Penetrance
  • Syndrome

Substances

  • FBN1 protein, human
  • Fibrillin-1

Supplementary concepts

  • Weill-Marchesani-Like Syndrome