Case Report: Whole-Exome Sequencing of Hypothalamic Hamartoma From an Infant With Pallister-Hall Syndrome Revealed Novel de novo Mutation in the GLI3

Background: GLI-Kruppel family member 3 (GLI3), a zinc finger transcription factor of the sonic hedgehog pathway, is essential for organ development. Mutations in GLI3 cause several congenital conditions, including Pallister-Hall syndrome (PHS), which is characterized by polydactyly and hypothalamic...

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Detalles Bibliográficos
Autores principales: Yang, Yue, Shen, Fang, Jing, Xie-Pan, Zhang, Nu, Xu, Shang-Yu, Li, Dan-Dong, Zhou, Ling-Li, Bai, Guang-Hui, Fang, Huang-Yi, Zhang, Zhong-Ding, Pang, Chen, Lin, Jian, Sheng, Han-Song
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Surgery
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8493334/
https://www.ncbi.nlm.nih.gov/pubmed/34631784
http://dx.doi.org/10.3389/fsurg.2021.734757

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