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A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing
Zhang, Lusi, Peng, Yingqian, Ouyang, Pingbo, Liang, Youling, Zeng, Huilan, Wang, Nuo, Duan, Xuanchu, Shi, JingmingVolume:
20
Journal:
BMC Medical Genetics
DOI:
10.1186/s12881-019-0840-9
Date:
December, 2019
File:
PDF, 3.41 MB
2019