Familial erythrocytosis associated with an EGLN1 (PHD2) variant of uncertain significance with emerging evidence of pathogenicity.

Ananthaneni A, Maddox K, Sam R, Ramadas P

DOI: 10.1136/bcr-2026-272167
Published: 2026 Aug 12
Container: BMJ case reports
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1136/bcr-2026-272167,
  title = {Familial erythrocytosis associated with an EGLN1 (PHD2) variant of uncertain significance with emerging evidence of pathogenicity.},
  author = {Ananthaneni A and Maddox K and Sam R and Ramadas P},
  year = {2026},
  journal = {BMJ case reports},
  doi = {10.1136/bcr-2026-272167},
  url = {https://doi.org/10.1136/bcr-2026-272167}
}

RIS

TY  - JOUR
TI  - Familial erythrocytosis associated with an EGLN1 (PHD2) variant of uncertain significance with emerging evidence of pathogenicity.
AU  - Ananthaneni A
AU  - Maddox K
AU  - Sam R
AU  - Ramadas P
PY  - 2026
JO  - BMJ case reports
DO  - 10.1136/bcr-2026-272167
UR  - https://doi.org/10.1136/bcr-2026-272167
ER  -

APA

A, A., K, M., R, S., & P, R. (2026). Familial erythrocytosis associated with an EGLN1 (PHD2) variant of uncertain significance with emerging evidence of pathogenicity.. BMJ case reports. https://doi.org/10.1136/bcr-2026-272167

Source records

pubmed · retrieved 2026-09-26T23:52:39.229Z