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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Detalles Bibliográficos
Autores principales: Huang, Liqin, Meng, Yong, Guo, Xiangming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636469/
https://www.ncbi.nlm.nih.gov/pubmed/31341655
http://dx.doi.org/10.1155/2019/5642126

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