Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome.

Mitchell LA, Schmidt J, Souzeau E, Knight LSW, Maxwell G, Dubowsky A, Lim R, Formaini E, Welland M, Simons C, MacArthur DG, Wiggs JL, Craig JE, Siggs OM

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DOI: 10.1038/s41431-026-02086-x
Published: 2026 May
Container: European journal of human genetics : EJHG
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/s41431-026-02086-x,
  title = {Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome.},
  author = {Mitchell LA and Schmidt J and Souzeau E and Knight LSW and Maxwell G and Dubowsky A and Lim R and Formaini E and Welland M and Simons C and MacArthur DG and Wiggs JL and Craig JE and Siggs OM},
  year = {2026},
  journal = {European journal of human genetics : EJHG},
  doi = {10.1038/s41431-026-02086-x},
  url = {https://doi.org/10.1038/s41431-026-02086-x}
}

RIS

TY  - JOUR
TI  - Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome.
AU  - Mitchell LA
AU  - Schmidt J
AU  - Souzeau E
AU  - Knight LSW
AU  - Maxwell G
AU  - Dubowsky A
AU  - Lim R
AU  - Formaini E
AU  - Welland M
AU  - Simons C
AU  - MacArthur DG
AU  - Wiggs JL
AU  - Craig JE
AU  - Siggs OM
PY  - 2026
JO  - European journal of human genetics : EJHG
DO  - 10.1038/s41431-026-02086-x
UR  - https://doi.org/10.1038/s41431-026-02086-x
ER  -

APA

LA, M., J, S., E, S., LSW, K., G, M., A, D., R, L., E, F., M, W., C, S., DG, M., JL, W., JE, C., & OM, S. (2026). Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome.. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-026-02086-x

Source records

pubmed · retrieved 2026-09-26T20:25:19.743Z