Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly

Am J Med Genet A. 2009 Feb 15;149A(4):812-5. doi: 10.1002/ajmg.a.32738.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Capillaries / abnormalities
  • Child, Preschool
  • Codon, Nonsense*
  • Duane Retraction Syndrome / complications
  • Duane Retraction Syndrome / genetics*
  • Ear, External / abnormalities
  • Fingers / abnormalities
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Male
  • Mosaicism*
  • Syndrome
  • Toes / abnormalities
  • Transcription Factors / genetics*
  • Urogenital Abnormalities / genetics

Substances

  • Codon, Nonsense
  • SALL1 protein, human
  • Transcription Factors