A Rare Homozygous Synonymous Variant in the ECM1 Gene in a Lipoid Proteinosis Patient.

Simsek M, Topcu H, Cabuk KS, Cubuk PO, Balaban EB, Peker A, Ulas MG, Efe AC

DOI: 10.14744/bej.2026.46343
Published: 2026
Container: Beyoglu eye journal
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.14744/bej.2026.46343,
  title = {A Rare Homozygous Synonymous Variant in the ECM1 Gene in a Lipoid Proteinosis Patient.},
  author = {Simsek M and Topcu H and Cabuk KS and Cubuk PO and Balaban EB and Peker A and Ulas MG and Efe AC},
  year = {2026},
  journal = {Beyoglu eye journal},
  doi = {10.14744/bej.2026.46343},
  url = {https://doi.org/10.14744/bej.2026.46343}
}

RIS

TY  - JOUR
TI  - A Rare Homozygous Synonymous Variant in the ECM1 Gene in a Lipoid Proteinosis Patient.
AU  - Simsek M
AU  - Topcu H
AU  - Cabuk KS
AU  - Cubuk PO
AU  - Balaban EB
AU  - Peker A
AU  - Ulas MG
AU  - Efe AC
PY  - 2026
JO  - Beyoglu eye journal
DO  - 10.14744/bej.2026.46343
UR  - https://doi.org/10.14744/bej.2026.46343
ER  -

APA

M, S., H, T., KS, C., PO, C., EB, B., A, P., MG, U., & AC, E. (2026). A Rare Homozygous Synonymous Variant in the ECM1 Gene in a Lipoid Proteinosis Patient.. Beyoglu eye journal. https://doi.org/10.14744/bej.2026.46343

Source records

pubmed · retrieved 2026-11-10T20:36:51.379Z