Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients.
- DOI
- 10.1038/s41431-026-02223-6
- Published
- 2026 Sep 17
- Container
- European journal of human genetics : EJHG
- Publisher
- Not recorded
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1038/s41431-026-02223-6,
title = {Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients.},
author = {Haase F and Ong OTW and Valenzuela I and Bournazos AM and Amasseri Z and Sheth F and Sheth J and Sheth H and Buchert R and Haack TB and Andrieux J and Liehr T and Kuechler A and de Los Reyes Helices D and Merjane J and Cooper ST and Kinoshita T and Murakami Y and Webster R and Gold W and Lisowski L},
year = {2026},
journal = {European journal of human genetics : EJHG},
doi = {10.1038/s41431-026-02223-6},
url = {https://doi.org/10.1038/s41431-026-02223-6}
}RIS
TY - JOUR TI - Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients. AU - Haase F AU - Ong OTW AU - Valenzuela I AU - Bournazos AM AU - Amasseri Z AU - Sheth F AU - Sheth J AU - Sheth H AU - Buchert R AU - Haack TB AU - Andrieux J AU - Liehr T AU - Kuechler A AU - de Los Reyes Helices D AU - Merjane J AU - Cooper ST AU - Kinoshita T AU - Murakami Y AU - Webster R AU - Gold W AU - Lisowski L PY - 2026 JO - European journal of human genetics : EJHG DO - 10.1038/s41431-026-02223-6 UR - https://doi.org/10.1038/s41431-026-02223-6 ER -
APA
F, H., OTW, O., I, V., AM, B., Z, A., F, S., J, S., H, S., R, B., TB, H., J, A., T, L., A, K., D, D. L. R. H., J, M., ST, C., T, K., Y, M., R, W., W, G., & L, L. (2026). Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients.. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-026-02223-6
Source records
- pubmed · retrieved 2026-09-25T23:14:51.112Z