A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

BACKGROUND: Axenfeld-Rieger syndrome (ARS) is an autosomal dominant genetic disorder that is characterized by specific abnormalities of the anterior segment of the eye. Heterozygous mutations in two developmental transcription factor genes PITX2 and FOXC1 have been identified within ARS patients, ac...

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Detalles Bibliográficos
Autores principales: Zhang, Lusi, Peng, Yingqian, Ouyang, Pingbo, Liang, Youling, Zeng, Huilan, Wang, Nuo, Duan, Xuanchu, Shi, Jingming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6560744/
https://www.ncbi.nlm.nih.gov/pubmed/31185933
http://dx.doi.org/10.1186/s12881-019-0840-9

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