Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog


Solomon B. D. , Bear K. A. , Wyllie A., Keaton A. A. , Dubourg C., David V., ...More

JOURNAL OF MEDICAL GENETICS, vol.49, no.7, pp.473-479, 2012 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 49 Issue: 7
  • Publication Date: 2012
  • Doi Number: 10.1136/jmedgenet-2012-101008
  • Title of Journal : JOURNAL OF MEDICAL GENETICS
  • Page Numbers: pp.473-479

Abstract

Background Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in SHH remain the most common cause of nonchromosomal HPE. The severity spectrum is wide, ranging from incompatibility with extrauterine life to isolated midline facial differences.