Large-scale second-hit AIP deletion causing a pediatric growth hormone-secreting pituitary adenoma: Case report and review of literature

Journal of Clinical Neuroscience(2020)

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摘要
•A young boy with excessive growth spurts was diagnosed with pituitary gigantism.•Successfully cured with endoscopic endonasal surgery.•Genetic sequencing demonstrated germline AIP mutation and large scale Ch 11 deletion.•Coincident germline and somatic mutations were significant in his phenotype.
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关键词
Gigantism,AIP,Pituitary adenoma
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