Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings

Kiana Magee, William McGonigle, Rena Pressman, Willa Thorson, Deborah Barbouth, Nicholas A. Borja

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DOI: 10.1038/s10038-024-01312-y
Published: 2024-12-19
Container: Journal of Human Genetics
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1038/s10038-024-01312-y,
  title = {Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings},
  author = {Kiana Magee and William McGonigle and Rena Pressman and Willa Thorson and Deborah Barbouth and Nicholas A. Borja},
  year = {2024},
  journal = {Journal of Human Genetics},
  doi = {10.1038/s10038-024-01312-y},
  url = {https://doi.org/10.1038/s10038-024-01312-y}
}

RIS

TY  - JOUR
TI  - Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings
AU  - Kiana Magee
AU  - William McGonigle
AU  - Rena Pressman
AU  - Willa Thorson
AU  - Deborah Barbouth
AU  - Nicholas A. Borja
PY  - 2024
JO  - Journal of Human Genetics
DO  - 10.1038/s10038-024-01312-y
UR  - https://doi.org/10.1038/s10038-024-01312-y
ER  -

APA

Magee, K., McGonigle, W., Pressman, R., Thorson, W., Barbouth, D., & Borja, N. A. (2024). Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings. Journal of Human Genetics. https://doi.org/10.1038/s10038-024-01312-y

Source records

crossref · retrieved 2026-09-27T07:04:46.643Z