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., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.49, sa.7, ss.473-479, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 49 Sayı: 7
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1136/jmedgenet-2012-101008
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.473-479
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.