Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model.

Buhl E, Garg S, Monaghan M, Preston A, Likeman M, Dare J, Evans J, Taylor LS, Berry I, Urankar K, Spry PGD, Williams C, Taylor RW, Alston CL, Hodge JJL, Majumdar A.

Open source

DOI: 10.1111/cge.14745
Published: 2025-04-10
Container: Clin Genet
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1111/cge.14745,
  title = {Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model.},
  author = {Buhl E and  Garg S and  Monaghan M and  Preston A and  Likeman M and  Dare J and  Evans J and  Taylor LS and  Berry I and  Urankar K and  Spry PGD and  Williams C and  Taylor RW and  Alston CL and  Hodge JJL and  Majumdar A.},
  year = {2025},
  journal = {Clin Genet},
  doi = {10.1111/cge.14745},
  url = {https://doi.org/10.1111/cge.14745}
}

RIS

TY  - JOUR
TI  - Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model.
AU  - Buhl E
AU  -  Garg S
AU  -  Monaghan M
AU  -  Preston A
AU  -  Likeman M
AU  -  Dare J
AU  -  Evans J
AU  -  Taylor LS
AU  -  Berry I
AU  -  Urankar K
AU  -  Spry PGD
AU  -  Williams C
AU  -  Taylor RW
AU  -  Alston CL
AU  -  Hodge JJL
AU  -  Majumdar A.
PY  - 2025
JO  - Clin Genet
DO  - 10.1111/cge.14745
UR  - https://doi.org/10.1111/cge.14745
ER  -

APA

E, B., S, G., M, M., A, P., M, L., J, D., J, E., LS, T., I, B., K, U., PGD, S., C, W., RW, T., CL, A., JJL, H., & A., M. (2025). Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model.. Clin Genet. https://doi.org/10.1111/cge.14745

Source records

europe-pmc · retrieved 2026-09-26T06:21:02.808Z