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