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

PURPOSE: The aims of this study were to examine novel mutations in PITX2 and FOXC1 in Chinese patients with anterior segment dysgenesis (ASD) and to compare the clinical presentations of these mutations with previously reported associated phenotypes. METHODS: Twenty-six unrelated patients with diffe...

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Bibliografski detalji
Izdano u:J Ophthalmol
Glavni autori: Huang, Liqin, Meng, Yong, Guo, Xiangming
Format: Artigo
Jezik:Inglês
Izdano: Hindawi 2019
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6636469/
https://ncbi.nlm.nih.gov/pubmed/31341655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/5642126
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