A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia

Am J Med Genet A. 2005 Sep 15;138(1):70-2. doi: 10.1002/ajmg.a.30892.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Agenesis of Corpus Callosum*
  • Base Sequence
  • Brain / abnormalities*
  • Chromosomes, Human, X / genetics
  • DNA Mutational Analysis
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / pathology
  • Genitalia, Male / abnormalities*
  • Homeodomain Proteins / genetics*
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Sequence Deletion*
  • Transcription Factors / genetics*

Substances

  • ARX protein, human
  • Homeodomain Proteins
  • Transcription Factors

Associated data

  • OMIM/247200
  • OMIM/300121