GPSM2 Mutations in Chudley-McCullough Syndrome

Am J Med Genet A. 2012 Nov;158A(11):2972-3. doi: 10.1002/ajmg.a.35636. Epub 2012 Sep 14.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Agenesis of Corpus Callosum / diagnosis
  • Agenesis of Corpus Callosum / genetics*
  • Arachnoid Cysts / diagnosis
  • Arachnoid Cysts / genetics*
  • Base Sequence
  • Female
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Mutation*
  • Pedigree

Substances

  • GPSM2 protein, human
  • Intracellular Signaling Peptides and Proteins

Supplementary concepts

  • Chudley-Mccullough syndrome