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

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 congenita...

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Detalles Bibliográficos
Autores principales: Ito, Saki, Kitazawa, Riko, Haraguchi, Ryuma, Kondo, Takeshi, Ouchi, Ayaka, Ueda, Yasuo, Kitazawa, Sohei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389258/
https://www.ncbi.nlm.nih.gov/pubmed/29368652
http://dx.doi.org/10.1186/s13000-017-0682-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389258/
https://www.ncbi.nlm.nih.gov/pubmed/29368652
http://dx.doi.org/10.1186/s13000-017-0682-8

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