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Severe Hypertension and Hematologic Abnormalities in Pseudoxanthoma Elasticum: A Pediatric Case Report. [PDF]

open access: yesJ Clin Hypertens (Greenwich)
ABSTRACT Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by pathogenic variants in ABCC6, leading to progressive calcification of elastic fibers. Although PXE typically presents in adolescence with dermatologic or ocular manifestations, early vascular involvement, including pediatric hypertension, is increasingly recognized.
Flogelova H   +8 more
europepmc   +2 more sources

Erythrocytosis associated with a novel missense mutation in the BPGM gene [PDF]

open access: yes, 2014
  +11 more
core   +1 more source

Potential Link Between Janus Kinase 2 Mutation and Renal Artery Stenosis Leading to Refractory Secondary Hypertension - A Case Report

open access: yesJK Science
Polycythaemia vera (PV) is a rare BCR/ABL negative chronic myeloproliferative neoplasm characterized by increased red cell mass, splenomegaly and JAK2 V617 mutation in nearly all patients.
Lakshmipriya V   +2 more
doaj  

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