Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis

Acta Ophthalmol. 2015 Feb;93(1):e91-2. doi: 10.1111/aos.12399. Epub 2014 May 7.
No abstract available

Publication types

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

MeSH terms

  • ADAMTS Proteins
  • Adolescent
  • Asian People / genetics*
  • Child
  • China
  • DNA Mutational Analysis
  • Ectopia Lentis / genetics*
  • Female
  • Heterozygote
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Thrombospondins / genetics*
  • Young Adult

Substances

  • ADAMTSL4 protein, human
  • Thrombospondins
  • ADAMTS Proteins

Supplementary concepts

  • Familial ectopia lentis