Novel biallelic multi-exon duplication in the PIGN gene associated with multiple congenital anomalies–hypotonia–seizures syndrome 1

Xiaohua Li, Xia Wang, Jimo Zhu, Hongping Li

Open source

DOI
10.1186/s12887-026-06923-2
Published
2026-07-08
Container
BMC Pediatrics
Publisher
Springer Science and Business Media LLC
Open access
unknown

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BibTeX

@article{allodium:10.1186/s12887-026-06923-2,
  title = {Novel biallelic multi-exon duplication in the PIGN gene associated with multiple congenital anomalies–hypotonia–seizures syndrome 1},
  author = {Xiaohua Li and Xia Wang and Jimo Zhu and Hongping Li},
  year = {2026},
  journal = {BMC Pediatrics},
  doi = {10.1186/s12887-026-06923-2},
  url = {https://doi.org/10.1186/s12887-026-06923-2}
}

RIS

TY  - JOUR
TI  - Novel biallelic multi-exon duplication in the PIGN gene associated with multiple congenital anomalies–hypotonia–seizures syndrome 1
AU  - Xiaohua Li
AU  - Xia Wang
AU  - Jimo Zhu
AU  - Hongping Li
PY  - 2026
JO  - BMC Pediatrics
DO  - 10.1186/s12887-026-06923-2
UR  - https://doi.org/10.1186/s12887-026-06923-2
ER  - 

APA

Li, X., Wang, X., Zhu, J., & Li, H. (2026). Novel biallelic multi-exon duplication in the PIGN gene associated with multiple congenital anomalies–hypotonia–seizures syndrome 1. BMC Pediatrics. https://doi.org/10.1186/s12887-026-06923-2

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