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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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Bibliografische gegevens
Gepubliceerd in:Pediatr Blood Cancer
Hoofdauteurs: Abdallah, Adel, Pappo, Alberto, Reiss, Ulrike, Shulkin, Barry L., Zhuang, Zhengping, Pacak, Karel, Bahrami, Armita
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2019
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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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