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Peer-reviewedCC BYFrontiers in medicine

Diverse PAX6 variants in three Chinese families with congenital aniridia: genotype–phenotype correlations and diagnostic implications

  • Wen-Jing Ku1
  • Tian-Ying Wei2
  • Jia-Lin Zhang3
  • Ming-Xian Kang2
  • Gang Yu1
  • Jia-En Liu2
  • Jing Zhang4
  • Hua-Ying Hu5
  • Feng Zhang1
5 affiliations
  1. 1Beijing Meihe Eye Clinic, Beijing Future Children’s Hospital , ,
  2. 2Beijing Jiaen Hospital, Heen Life Medical Research Institute , ,
  3. 3Clinical College of Chengde Medical University , , ,
  4. 4Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Hebei Key Laboratory of Maternal and Fetal Medicine , , ,
  5. 5Medical Innovation Research Division of Chinese PLA General Hospital , ,
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Cite

BibTeXRIS
BibTeX
@article{ku2026diverse,
  title = {{Diverse PAX6 variants in three Chinese families with congenital aniridia: genotype–phenotype correlations and diagnostic implications}},
  author = {Wen-Jing Ku and Tian-Ying Wei and Jia-Lin Zhang and Ming-Xian Kang and Gang Yu and Jia-En Liu and Jing Zhang and Hua-Ying Hu and Feng Zhang},
  journal = {Frontiers in medicine},
  year = {2026},
  month = nov,
  url = {https://europepmc.org/article/PMC/PMC13730820},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Diverse PAX6 variants in three Chinese families with congenital aniridia: genotype–phenotype correlations and diagnostic implications
AU  - Wen-Jing Ku
AU  - Tian-Ying Wei
AU  - Jia-Lin Zhang
AU  - Ming-Xian Kang
AU  - Gang Yu
AU  - Jia-En Liu
AU  - Jing Zhang
AU  - Hua-Ying Hu
AU  - Feng Zhang
PY  - 2026
DA  - 2026/11/04
JO  - Frontiers in medicine
UR  - https://europepmc.org/article/PMC/PMC13730820
SN  - 2296-858X
ER  -