Rapamycin treatment for a child with germline PTEN mutation
@article{Marsh2008RapamycinTF, title={Rapamycin treatment for a child with germline PTEN mutation}, author={Deborah J. Marsh and Toby N. Trahair and Janet L Martin and Wey Yeeng Chee and Jan Walker and Edwin P. Kirk and Robert C. Baxter and Glenn M. Marshall}, journal={Nature Clinical Practice Oncology}, year={2008}, volume={5}, pages={357-361} }
Background A 9-month-old boy with Proteus syndrome and a de novo germline mutation in the tumor suppressor PTEN was referred to a specialist centre for management. Over the first years of life, the patient developed life-threatening respiratory dysfunction and malnutrition because of progressive growth of hamartomas affecting the chest, mediastinum, abdomen and pelvis.Investigations Physical examination, CT scans of the mediastinum, pelvis and abdomen, measurement of serum insulin-like growth…
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