Novel compound heterozygous <i>POLR3A</i> variation: expanding 4H syndrome with progressive keratoconus

Enver Simsek, Tulay Simsek, Oguz Cilingir, Eray Atalay

Open source

DOI: 10.1210/jcemcr/luag333
Published: 2026-10-16
Container: JCEM Case Reports
Publisher: The Endocrine Society
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1210/jcemcr/luag333,
  title = {Novel compound heterozygous
                    <i>POLR3A</i>
                    variation: expanding 4H syndrome with progressive keratoconus},
  author = {Enver Simsek and Tulay Simsek and Oguz Cilingir and Eray Atalay},
  year = {2026},
  journal = {JCEM Case Reports},
  doi = {10.1210/jcemcr/luag333},
  url = {https://doi.org/10.1210/jcemcr/luag333}
}

RIS

TY  - JOUR
TI  - Novel compound heterozygous
                    <i>POLR3A</i>
                    variation: expanding 4H syndrome with progressive keratoconus
AU  - Enver Simsek
AU  - Tulay Simsek
AU  - Oguz Cilingir
AU  - Eray Atalay
PY  - 2026
JO  - JCEM Case Reports
DO  - 10.1210/jcemcr/luag333
UR  - https://doi.org/10.1210/jcemcr/luag333
ER  -

APA

Simsek, E., Simsek, T., Cilingir, O., & Atalay, E. (2026). Novel compound heterozygous <i>POLR3A</i> variation: expanding 4H syndrome with progressive keratoconus. JCEM Case Reports. https://doi.org/10.1210/jcemcr/luag333

Source records

crossref · retrieved 2026-11-09T13:11:51.907Z