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Select item 73367311.

Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome

Valeria Lo Faro, Sorath N. Siddiqui, Muhammad I. Khan, Cristina Villanueva‐Mendoza, Vianney Cortés‐González, Nomdo Jansonius, Arthur A. B. Bergen, Shazia Micheal

Mol Genet Genomic Med. 2020 Jul; 8(7): e1215. Published online 2020 May 13. doi: 10.1002/mgg3.1215

PMCID:: PMC7336731

Abstract Article PDF–1.5M

Select item 49882552.

A Rare Recurrent 4q25 Proximal Deletion Not Involving the PITX2 Gene: A Genomic Disorder Distinct from Axenfeld-Rieger Syndrome

Jennifer L. Heithaus, Kimberly A. Twyman, Jacqueline R. Batanian

Mol Syndromol. 2016 Jul; 7(3): 138–143. Published online 2016 Jun 23. doi: 10.1159/000447077

PMCID:: PMC4988255

Abstract Article PDF–261K

Select item 50401923.

Heterozygous Pitx2 Null Mice Accurately Recapitulate the Ocular Features of Axenfeld-Rieger Syndrome and Congenital Glaucoma

Lisheng Chen, Philip J. Gage

Invest Ophthalmol Vis Sci. 2016 Sep; 57(11): 5023–5030. doi: 10.1167/iovs.16-19700

PMCID:: PMC5040192

Abstract Article PDF–1.1M

Select item 54656834.

A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome

Susan J. Hassed, Shibo Li, Weihong Xu, Ashley C. Taylor

Mol Syndromol. 2017 Mar; 8(2): 107–109. Published online 2017 Jan 20. doi: 10.1159/000454963

PMCID:: PMC5465683

Abstract Article PDF–92K

Select item 54853335.

Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome

Kuanshu Li, Liu Yang, Ying Liu, Ding Lin

J Ophthalmol. 2017; 2017: 5078079. Published online 2017 Jun 13. doi: 10.1155/2017/5078079

PMCID:: PMC5485333

Abstract Article PDF–2.0M

Select item 55151466.

A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings

Da-Peng Sun, Yun-Hai Dai, Xiao-Jing Pan, Tao Shan, Dian-Qiang Wang, Peng Chen

Int J Ophthalmol. 2017; 10(6): 847–853. Published online 2017 Jun 18. doi: 10.18240/ijo.2017.06.04

PMCID:: PMC5515146

Abstract Article PDF–2.2M

Select item 55717017.

The rare Axenfeld–Rieger syndrome with systemic anomalies: A case report and brief review of literature

Wei Song, Xiaodan Hu

Medicine (Baltimore) 2017 Aug; 96(33): e7791. Published online 2017 Aug 18. doi: 10.1097/MD.0000000000007791

PMCID:: PMC5571701

Abstract Article PDF–392K

Select item 63501168.

Corneal crosslinking in a case with Axenfeld–Rieger syndrome and unilateral pellucid marginal degeneration

Mustafa Koc, Pinar Kosekahya, Merve Inanc, Kemal Tekin

Ther Adv Ophthalmol. 2019 Jan-Dec; 11: 2515841418822288. Published online 2019 Jan 18. doi: 10.1177/2515841418822288

PMCID:: PMC6350116

Abstract Article PDF–1.0M

Select item 65607449.

A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Lusi Zhang, Yingqian Peng, Pingbo Ouyang, Youling Liang, Huilan Zeng, Nuo Wang, Xuanchu Duan, Jingming Shi

BMC Med Genet. 2019; 20: 105. Published online 2019 Jun 11. doi: 10.1186/s12881-019-0840-9

PMCID:: PMC6560744

Abstract Article PDF–3.4M

Select item 663646910.

Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome

Liqin Huang, Yong Meng, Xiangming Guo

J Ophthalmol. 2019; 2019: 5642126. Published online 2019 Jul 1. doi: 10.1155/2019/5642126

PMCID:: PMC6636469

Abstract Article PDF–5.7M

Select item 667621511.

A novel mutation of FOXC1 in a Chinese family with Axenfeld-Rieger syndrome

Xing Wu, Hai-Nan Xie, Tong Wu, Wei Liu, Lan-Lam Chen, Zhao-Hui Li, Da-Jiang Wang, Yi Wang, Hou-Bin Huang

Exp Ther Med. 2019 Sep; 18(3): 2255–2261. Published online 2019 Jul 18. doi: 10.3892/etm.2019.7789

PMCID:: PMC6676215

Abstract Article PDF–1.1M

Select item 716093112.

The diagnosis and phacoemulsification in combination with intraocular lens implantation for an Axenfeld–Rieger syndrome patient with small cornea: a case report

Yajuan Ma, Xingdi Wu, Shuang Ni, Xiang Chen, Suhong He, Wen Xu

BMC Ophthalmol. 2020; 20: 148. Published online 2020 Apr 15. doi: 10.1186/s12886-020-01406-z

PMCID:: PMC7160931

Abstract Article PDF–1.9M

Select item 719096413.

Unusual association of Axenfeld-Rieger syndrome and wandering spleen: A case report

Yi-Lin Chang, Joseph Lin, Yu-Hsien Li, Lien-Cheng Tsao

World J Clin Cases. 2020 Apr 26; 8(8): 1502–1506. Published online 2020 Apr 26. doi: 10.12998/wjcc.v8.i8.1502

PMCID:: PMC7190964

Abstract Article PDF–639K

Select item 719341614.

Surgical outcomes of Glaucoma associated with Axenfeld-Rieger syndrome

Emily M. Zepeda, Kari Branham, Sayoko E. Moroi, Brenda L. Bohnsack

BMC Ophthalmol. 2020; 20: 172. Published online 2020 May 1. doi: 10.1186/s12886-020-01417-w

PMCID:: PMC7193416

Abstract Article PDF–458K

Select item 496312715.

A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma

Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Cristina Villanueva-Mendoza, Vianney Cortés-González, Muhammad Imran Khan, Anneke I. den Hollander

PLoS One. 2016; 11(7): e0160016. Published online 2016 Jul 27. doi: 10.1371/journal.pone.0160016

PMCID:: PMC4963127

Abstract Article PDF–5.0M

Select item 741093416.

Axenfeld–Rieger Syndrome: Rare Case Presentation and Overview

Padmanidhi Agarwal, Kanav Jain, Shubham Sandesh, Sakshi Chopra

J Maxillofac Oral Surg. 2020 Sep; 19(3): 364–369. Published online 2019 Nov 23. doi: 10.1007/s12663-019-01307-9

PMCID:: PMC7410934

Abstract Article PDF–586K

Select item 753052817.

Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome

Jesús-José Ferre-Fernández, Elena A Sorokina, Samuel Thompson, Ross F Collery, Emily Nordquist, Joy Lincoln, Elena V Semina

Hum Mol Genet. 2020 Aug 15; 29(16): 2723–2735. Published online 2020 Jul 28. doi: 10.1093/hmg/ddaa163

PMCID:: PMC7530528

Abstract Article PDF–2.1M

Select item 755371918.

A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome

Yayun Qin, Pang Gao, Shanshan Yu, Jingzhen Li, Yuwen Huang, Danna Jia, Zhaohui Tang, Pengcheng Li, Fei Liu, Mugen Liu

Mol Vis. 2020; 26: 670–678. Published online 2020 Oct 4.

PMCID:: PMC7553719

Abstract Article PDF–3.7M

Select item 773901919.

Ocular hypertension in Axenfeld-Rieger Syndrome

Glenda Espinosa-Barberi, José Francisco Galván González, Alfonso Antón

Rom J Ophthalmol. 2020 Oct-Dec; 64(4): 455–458. doi: 10.22336/rjo.2020.70

PMCID:: PMC7739019

Abstract Article PDF–1.0M

Select item 783946920.

Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants

Emmanuelle Souzeau, Owen M. Siggs, Francesca Pasutto, Lachlan S. W. Knight, Luis A. Perez‐Jurado, Lesley McGregor, Shannon Le Blanc, Christopher P. Barnett, Jan Liebelt, Jamie E. Craig

Am J Med Genet A. 2021 Feb; 185(2): 434–439. Published online 2020 Nov 24. doi: 10.1002/ajmg.a.61982