Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS)

J Med Genet. 2001 Jun;38(6):411-7. doi: 10.1136/jmg.38.6.411.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Alternative Splicing
  • Chromosome Deletion
  • Face
  • Female
  • GTPase-Activating Proteins / genetics*
  • Humans
  • Infant
  • Microphthalmos / diagnosis
  • Microphthalmos / genetics*
  • Microphthalmos / pathology
  • Neck
  • Sex Chromosome Aberrations*
  • Skin Abnormalities / diagnosis
  • Skin Abnormalities / genetics*
  • Skin Abnormalities / pathology
  • Syndrome
  • Translocation, Genetic
  • X Chromosome*

Substances

  • ARHGAP6 protein, human
  • GTPase-Activating Proteins