A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome

PURPOSE: To identify the genetic cause in a four-generation Chinese family with Axenfeld-Rieger syndrome (ARS). METHODS: The family members received clinical examinations of the eye, tooth, periumbilical skin, and heart. Sanger sequencing and whole-exome sequencing (WES) were performed to screen pot...

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Detalles Bibliográficos
Autores principales: Qin, Yayun, Gao, Pang, Yu, Shanshan, Li, Jingzhen, Huang, Yuwen, Jia, Danna, Tang, Zhaohui, Li, Pengcheng, Liu, Fei, Liu, Mugen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7553719/
https://www.ncbi.nlm.nih.gov/pubmed/33088171

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