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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F14%3A10293406%21RIV15-MSM-11130___
rdf:type
n15:Vysledek skos:Concept
dcterms:description
Recently, a new syndrome involving somatic gain-of-function mutations in the gene encoding hypoxia-inducible factor α (HIF2A) was described by Pacak and Zhuang. This syndrome, only presenting in females, is characterized by congenital or early onset polycythemia, multiple paragangliomas (PGLs)/pheochromocytomas (PHEOs), and duodenal somatostatinomas. Recently, a new syndrome involving somatic gain-of-function mutations in the gene encoding hypoxia-inducible factor α (HIF2A) was described by Pacak and Zhuang. This syndrome, only presenting in females, is characterized by congenital or early onset polycythemia, multiple paragangliomas (PGLs)/pheochromocytomas (PHEOs), and duodenal somatostatinomas.
dcterms:title
Pacak-Zhuang Syndrome: A New Kid on The Block Pacak-Zhuang Syndrome: A New Kid on The Block
skos:prefLabel
Pacak-Zhuang Syndrome: A New Kid on The Block Pacak-Zhuang Syndrome: A New Kid on The Block
skos:notation
RIV/00216208:11130/14:10293406!RIV15-MSM-11130___
n3:aktivita
n17:I
n3:aktivity
I
n3:cisloPeriodika
11
n3:dodaniDat
n16:2015
n3:domaciTvurceVysledku
n14:2084341
n3:druhVysledku
n11:J
n3:duvernostUdaju
n7:S
n3:entitaPredkladatele
n12:predkladatel
n3:idSjednocenehoVysledku
35577
n3:idVysledku
RIV/00216208:11130/14:10293406
n3:jazykVysledku
n4:eng
n3:klicovaSlova
mutations; polycythemia; paraganglioma
n3:klicoveSlovo
n6:paraganglioma n6:mutations n6:polycythemia
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[B725CB97EA2B]
n3:nazevZdroje
Endocrine Practice
n3:obor
n9:FD
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
2
n3:rokUplatneniVysledku
n16:2014
n3:svazekPeriodika
20
n3:tvurceVysledku
Vícha, Aleš Mercado-Asis, Leilani B.
n3:wos
000350030000022
s:issn
1530-891X
s:numberOfPages
2
n13:organizacniJednotka
11130