努南综合征,PTPN11 突变,和脑肿瘤。临床报告和文献综述。
关键词: Nooonan syndrome PTPN11 mutations dysembryoplastic neuroepithelial tumor glioneuronal tumors low-grade glial tumors
Mesh : Adolescent Adult Basic Helix-Loop-Helix Transcription Factors / genetics metabolism Brain Neoplasms / diagnosis genetics pathology surgery Child Epilepsy / diagnosis genetics pathology surgery Extracellular Signal-Regulated MAP Kinases / genetics metabolism Gene Expression Genes, Dominant Humans Male Mutation Neoplasms, Neuroepithelial / diagnosis genetics pathology surgery Nerve Tissue Proteins / genetics metabolism Noonan Syndrome / diagnosis genetics pathology surgery Oligodendrocyte Transcription Factor 2 Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics metabolism Temporal Lobe / metabolism pathology surgery Thalamus / metabolism pathology surgery
来 源:
DOI:10.1002/ajmg.a.38108
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