Article
A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome.
Molecular vision - 1 Jan 2020
Qin Yayun, Gao Pang, Yu Shanshan, Li Jingzhen, Huang Yuwen, Jia Danna, Tang Zhaohui, Li Pengcheng, Liu Fei, Liu Mugen
Abstract excerpt
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 potential mutations. The genomic deletion region around the PITX2 gene was estimated from single nucleotide...
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