A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreased expression of nuclear PITX2 protein

PURPOSE: Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder characterized by ocular anterior segment abnormalities. In the current study, we describe clinical and genetic findings in a Chinese ARS pedigree. METHODS: An ARS pedigree was recruited and patients were given comprehensive op...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Feng, Zhang, Lusi, He, Li, Cao, Mengdan, Yang, Yuting, Duan, Xuanchu, Shi, Jingming, Liu, Ke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2021
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8035109/
https://www.ncbi.nlm.nih.gov/pubmed/33492563
http://dx.doi.org/10.1007/s10792-021-01704-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8035109/
https://www.ncbi.nlm.nih.gov/pubmed/33492563
http://dx.doi.org/10.1007/s10792-021-01704-5

Ejemplares similares