Literature DB >> 27697311

Axenfeld-Rieger Syndrome and Leukoencephalopathy Caused by a Mutation in FOXC1.

Manish Kumar1, Chelsea Chambers1, Radhika Dhamija2.   

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Year:  2016        PMID: 27697311     DOI: 10.1016/j.pediatrneurol.2016.08.020

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


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  4 in total

Review 1.  A novel missense mutation of FOXC1 in an Axenfeld-Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review.

Authors:  Kaiming Li; Min Tang; Manhua Xu; Yinggui Yu
Journal:  BMC Med Genomics       Date:  2021-10-29       Impact factor: 3.063

Review 2.  Research progress on the forkhead box C1.

Authors:  Jinhua Wang; Wan Li; Xiangjin Zheng; Xiaocong Pang; Guanhua Du
Journal:  Oncotarget       Date:  2017-11-20

3.  How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.

Authors:  Rhea Y Y Tan; Matthew Traylor; Karyn Megy; Daniel Duarte; Sri V V Deevi; Olga Shamardina; Rutendo P Mapeta; Willem H Ouwehand; Stefan Gräf; Kate Downes; Hugh S Markus
Journal:  Neurology       Date:  2019-11-12       Impact factor: 9.910

4.  Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.

Authors:  Mariya R Ahmed; Saumil Sethna; Laura A Krueger; Michael B Yang; Robert B Hufnagel
Journal:  Genes (Basel)       Date:  2022-02-24       Impact factor: 4.096

  4 in total

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