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

• Autors principals: Saki Ito (Autor), Riko Kitazawa (Autor), Ryuma Haraguchi (Autor), Takeshi Kondo (Autor), Ayaka Ouchi (Autor), Yasuo Ueda (Autor), Sohei Kitazawa (Autor)
• Format: Llibre
• Publicat: BMC, 2018-01-01T00:00:00Z.
• Matèries: article
• Accés en línia: 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...