Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11

JAMA Ophthalmol. 2015 Jun;133(6):720-1. doi: 10.1001/jamaophthalmol.2015.199.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Facies
  • Fluorescein Angiography
  • Gene Deletion*
  • Humans
  • Kinesins / genetics*
  • Lymphedema / diagnosis
  • Lymphedema / genetics*
  • Male
  • Microcephaly / diagnosis
  • Microcephaly / genetics*
  • Mutation / genetics*
  • Retinal Dysplasia / diagnosis
  • Retinal Dysplasia / genetics*
  • Tomography, Optical Coherence
  • Visual Acuity

Substances

  • KIF11 protein, human
  • Kinesins

Supplementary concepts

  • Lymphedema, microcephaly and chorioretinopathy syndrome