Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals <i>CYP1B1</i> and <i>FOXC1</i> Variants as Most Frequent Causes.

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作者： Elena,Lang ^[1] ; Samuel,Koller ^[2] ; Luzy,Bähr ^[2] ; Marc,Töteberg-Harms ^[2] ; David,Atac ^[1] ; Françoise,Roulez ^[2] ; Angela,Bahr ^[3] ; Katharina,Steindl ^[4] ; Silke,Feil ^[4] ; Wolfgang,Berger ^[2] ; Christina,Gerth-Kahlert ^[2]

作者单位： Department of Ophthalmology, University Hospital Zurich, University of Zurich, Zurich, Switzerland. ^[1] Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland. ^[2] Department of Ophthalmology, University Hospital Basel, Basel, Switzerland. ^[3] Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. ^[4] Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland. ^[5] Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland. ^[6]

关键词 Axenfeld-Rieger syndrome CYP1B1 FOXC1 childhood glaucoma primary congenital glaucoma

主题词 DNA拷贝数变异(DNA Copy Number Variations);叉头转录因子类(Forkhead Transcription Factors);青光眼(Glaucoma);人类(Humans);瑞士(Switzerland)

DOI 10.1167/tvst.9.7.47

PMID 32832252

发布时间 2022-12-07

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Translational vision science & technology

2020年9卷7期

47页

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Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals <i>CYP1B1</i> and <i>FOXC1</i> Variants as Most Frequent Causes.

Translational vision science & technology

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Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals <i>CYP1B1</i> and <i>FOXC1</i> Variants as Most Frequent Causes.

Translational vision science & technology

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Translational vision science & technology

相关期刊

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