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

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

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...

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Bibliographic Details
Main Authors: Saki Ito, Riko Kitazawa, Ryuma Haraguchi, Takeshi Kondo, Ayaka Ouchi, Yasuo Ueda, Sohei Kitazawa
Format: Article
Language:English
Published: BMC 2018-01-01
Series:Diagnostic Pathology
Subjects:
GLI3
Hedgehog
Greig cephalopolysyndactyly syndrome
Pallister-hall syndrome
Online Access:http://link.springer.com/article/10.1186/s13000-017-0682-8

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