Expanding the spectrum of clinical severity of <scp>AICA</scp>‐ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in <scp>ATIC</scp> gene
- DOI
- 10.1002/ajmg.a.63036
- Published
- 2022-11-11
- Container
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1002/ajmg.a.63036,
title = {Expanding the spectrum of clinical severity of <scp>AICA</scp>‐ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in <scp>ATIC</scp> gene},
author = {Jessica Galli and Enza Maria Valente and Joseph Dewulf and Alessandra Franzoni and Sandrine Marie and Massimo Plumari and Federica Zanetti and Elisa Fazzi},
year = {2022},
journal = {American Journal of Medical Genetics Part A},
doi = {10.1002/ajmg.a.63036},
url = {https://doi.org/10.1002/ajmg.a.63036}
}RIS
TY - JOUR TI - Expanding the spectrum of clinical severity of <scp>AICA</scp>‐ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in <scp>ATIC</scp> gene AU - Jessica Galli AU - Enza Maria Valente AU - Joseph Dewulf AU - Alessandra Franzoni AU - Sandrine Marie AU - Massimo Plumari AU - Federica Zanetti AU - Elisa Fazzi PY - 2022 JO - American Journal of Medical Genetics Part A DO - 10.1002/ajmg.a.63036 UR - https://doi.org/10.1002/ajmg.a.63036 ER -
APA
Galli, J., Valente, E. M., Dewulf, J., Franzoni, A., Marie, S., Plumari, M., Zanetti, F., & Fazzi, E. (2022). Expanding the spectrum of clinical severity of <scp>AICA</scp>‐ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in <scp>ATIC</scp> gene. American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.63036
Source records
- crossref · retrieved 2026-09-25T11:55:18.805Z