The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.

Polet SS, Siegal EZ, Fuchs SA, Tijssen MAJ, de Koning TJ

DOI: 10.1002/jimd.70115
Published: 2025 Nov
Container: Journal of inherited metabolic disease
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1002/jimd.70115,
  title = {The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.},
  author = {Polet SS and Siegal EZ and Fuchs SA and Tijssen MAJ and de Koning TJ},
  year = {2025},
  journal = {Journal of inherited metabolic disease},
  doi = {10.1002/jimd.70115},
  url = {https://doi.org/10.1002/jimd.70115}
}

RIS

TY  - JOUR
TI  - The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.
AU  - Polet SS
AU  - Siegal EZ
AU  - Fuchs SA
AU  - Tijssen MAJ
AU  - de Koning TJ
PY  - 2025
JO  - Journal of inherited metabolic disease
DO  - 10.1002/jimd.70115
UR  - https://doi.org/10.1002/jimd.70115
ER  -

APA

SS, P., EZ, S., SA, F., MAJ, T., & TJ, D. K. (2025). The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.. Journal of inherited metabolic disease. https://doi.org/10.1002/jimd.70115

Source records

pubmed · retrieved 2026-09-26T02:08:02.993Z