Skip to content
DraconiticResearch
Search Sources API
203,234 studies31 sourcesUpdated 52 min ago
Peer-reviewedCC BYFrontiers in pediatrics

Case Report: Early-onset portal hypertension revealing pediatric ADPKD with a truncating PKD1 variant

  • Ana Katerin Minota Idarraga1
  • Ivan Mauricio Llanos Arango1
  1. 1Universidad Libre Seccional Cali , ,
Read full textPDFCite

Related

  1. Case Report: Fabry cardiomyopathy associated with a novel truncating GLA variant, c.837_838delinsAT, p.(Gln280Ter)
    Fernando Perretta, Eduardo Zurita, Marcelo Ortiz +1
    Frontiers in medicinePeer-reviewedCC BYFull textGeneral medicineEurope PMC
  2. Molecular overlap between primary immune thrombocytopenia and inherited platelet disorders: A pediatric case report with a novel heterozygous ITGB3 variant identified by next-generation sequencing
    Félix David Duarte Rodríguez, Óscar Eduardo González Figueredo, Alejandra Calderón Gasca
    Therapeutic Advances in HematologyPeer-reviewedCC BY-NC 4.0Full textGeneral medicinePMCEurope PMC
  3. An incidental heterozygous ATP7B nonsense variant leading to a diagnostic pitfall for Wilson disease: a pediatric case report.
    Zhongqiang Xu, Junfeng Tang
    BMC gastroenterologyPeer-reviewedCC BY-NC-NDFull textGeneral medicineEurope PMCDOAJ
  4. Myocarditis Revealing a Pathogenic Desmoplakin (DSP) Variant: Implications for Genetic Testing Pathways.
    Blend Reka, Jason N Dungu
    CureusPeer-reviewedCC BYFull textCardiovascular medicineEurope PMC
  5. Cervical Scrofula Revealing Miliary Tuberculosis and Previously Undiagnosed Advanced HIV: A Case Report
    Youssef Habib, Jeris Abuhouran, Medin Tafa
    CureusPeer-reviewedCC BYFull textGeneral medicineEurope PMC

Cite

BibTeXRIS
BibTeX
@article{idarraga2026case,
  title = {{Case Report: Early-onset portal hypertension revealing pediatric ADPKD with a truncating PKD1 variant}},
  author = {Ana Katerin Minota Idarraga and Ivan Mauricio Llanos Arango},
  journal = {Frontiers in pediatrics},
  year = {2026},
  month = oct,
  url = {https://europepmc.org/article/PMC/PMC13671106},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Case Report: Early-onset portal hypertension revealing pediatric ADPKD with a truncating PKD1 variant
AU  - Ana Katerin Minota Idarraga
AU  - Ivan Mauricio Llanos Arango
PY  - 2026
DA  - 2026/10/19
JO  - Frontiers in pediatrics
UR  - https://europepmc.org/article/PMC/PMC13671106
SN  - 2296-2360
ER  -