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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Bibliografiske detaljer
Udgivet i:J Ophthalmol
Main Authors: Huang, Liqin, Meng, Yong, Guo, Xiangming
Format: Artigo
Sprog:Inglês
Udgivet: Hindawi 2019
Fag:
Research Article
Online adgang: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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