A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1.

Farris J, Dergam-Larson C, Lopour M, Darr K, Schimmenti LA, Scruggs BA, Lambert LJ, Klee EW

DOI: 10.1186/s12920-025-02160-1
Published: 2025 May 26
Container: BMC medical genomics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1186/s12920-025-02160-1,
  title = {A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1.},
  author = {Farris J and Dergam-Larson C and Lopour M and Darr K and Schimmenti LA and Scruggs BA and Lambert LJ and Klee EW},
  year = {2025},
  journal = {BMC medical genomics},
  doi = {10.1186/s12920-025-02160-1},
  url = {https://doi.org/10.1186/s12920-025-02160-1}
}

RIS

TY  - JOUR
TI  - A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1.
AU  - Farris J
AU  - Dergam-Larson C
AU  - Lopour M
AU  - Darr K
AU  - Schimmenti LA
AU  - Scruggs BA
AU  - Lambert LJ
AU  - Klee EW
PY  - 2025
JO  - BMC medical genomics
DO  - 10.1186/s12920-025-02160-1
UR  - https://doi.org/10.1186/s12920-025-02160-1
ER  -

APA

J, F., C, D., M, L., K, D., LA, S., BA, S., LJ, L., & EW, K. (2025). A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1.. BMC medical genomics. https://doi.org/10.1186/s12920-025-02160-1

Source records

pubmed · retrieved 2026-09-26T05:08:01.662Z