Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas

• Main Authors: Saki Ito (Author), Riko Kitazawa (Author), Ryuma Haraguchi (Author), Takeshi Kondo (Author), Ayaka Ouchi (Author), Yasuo Ueda (Author), Sohei Kitazawa (Author)
• Format: Book
• Published: BMC, 2018-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background A proper balance between the activator and the repressor form of GLI3, a zinc-finger transcription factor downstream of hedgehog signaling, is essential for proper development of various organs during development. Mutations in different domains of the GLI3 gene underlie several c...