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Genetic characterization and functional analysis of novel PITX2 variants identified in Chinese families with Axenfeld‑Rieger syndrome

Junqin Xu Xinyao Wang Zilin Zhong Jianjun Chen Peng Yang

Acta Biochimica et Biophysica Sinica2026，Vol.58Issue(5)：P.1179-1182,4.

Acta Biochimica et Biophysica Sinica2026，Vol.58Issue(5)：P.1179-1182,4.DOI:10.3724/abbs.2025167

Genetic characterization and functional analysis of novel PITX2 variants identified in Chinese families with Axenfeld‑Rieger syndrome

Junqin Xu ¹Xinyao Wang ²Zilin Zhong ³Jianjun Chen ³Peng Yang¹

作者信息

1. Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation,Clinical Research Center for Anesthesiology and Perioperative Medicine,Translational Research Institute of Brain and Brain-Like Intelligence,Shanghai Fourth People’s Hospital,School of Life Sciences and Technology,Tongji University,Shanghai 20092,China
2. Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation,Clinical Research Center for Anesthesiology and Perioperative Medicine,Translational Research Institute of Brain and Brain-Like Intelligence,Department of Pediatrics,Shanghai Fourth People’s Hospital,School of Medicine,Tongji University,Shanghai 200434,China Institute of Medical Genetics,Department of Big Data in Health Science School of Public Health and General Practice Medicine,School of Medicine,Tongji University,Shanghai 200092,China
3. Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation,Clinical Research Center for Anesthesiology and Perioperative Medicine,Translational Research Institute of Brain and Brain-Like Intelligence,Department of Pediatrics,Shanghai Fourth People’s Hospital,School of Medicine,Tongji University,Shanghai 200434,China Institute of Medical Genetics,Department of Big Data in Health Science School of Public Health and General Practice Medicine,School of Medicine,Tongji University,Shanghai 200092,China Tongji University School of Medicine,Shanghai 200331,China
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摘要

关键词

periumbilical ski/systemic features/craniofacial dysmorphismdental/anterior segment dysgenesisincluding/functional analysis/axenfeld rieger syndrome ars initially/iris stromal hypoplasiacorectopiaand/genetic characterization

分类

医药卫生

引用本文复制引用

Junqin Xu,Xinyao Wang,Zilin Zhong,Jianjun Chen,Peng Yang..Genetic characterization and functional analysis of novel PITX2 variants identified in Chinese families with Axenfeld‑Rieger syndrome[J].Acta Biochimica et Biophysica Sinica,2026,58(5):P.1179-1182,4.

基金项目

supported by the grants from the Ministry of Science and Technology of China(Nos.2021YFA1101300 and 2020YFA0112500 to J.C.) （Nos.2021YFA1101300 and 2020YFA0112500 to J.C.）

the National Natural Science Foundation of China(NSFC)(Nos.32470626 and 32271355 to P.Y.) （NSFC）

Jiangxi Province’s“Double Thousand Plan”Technology High end Innovative Talents(No.jxsq20231022228 to J.C.). （No.jxsq20231022228 to J.C.）

Acta Biochimica et Biophysica Sinica

ISSN：1672-9145

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