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Clinical Manifestations of Pacak-Zhuang Syndrome in a Male Pediatric Patient
We report an index case of a male patient who presented with all clinical manifestations of Pacak-Zhuang syndrome, including early-age polycythemia, multiple pheochromocytomas/paragangliomas, duodenal somatostatinoma, ocular findings. Sequencing analysis detected an EPAS1 mutation in all tumors test...
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| Gepubliceerd in: | Pediatr Blood Cancer |
|---|---|
| Hoofdauteurs: | , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
2019
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7036331/ https://ncbi.nlm.nih.gov/pubmed/31876082 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pbc.28096 |
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