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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Autors principals:	Saki Ito, Riko Kitazawa, Ryuma Haraguchi, Takeshi Kondo, Ayaka Ouchi, Yasuo Ueda, Sohei Kitazawa
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2018-01-01
Col·lecció:	Diagnostic Pathology
Matèries:	GLI3 Hedgehog Greig cephalopolysyndactyly syndrome Pallister-hall syndrome
Accés en línia:	http://link.springer.com/article/10.1186/s13000-017-0682-8
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