A novel frameshift mutation in the PITX2 gene in a family...

BMC Medical Genetics 2019 / 12 Vol. 20; Iss. 1

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, Jingming
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Volume:
20
Language:
english
Journal:
BMC Medical Genetics
DOI:
10.1186/s12881-019-0840-9
Date:
December, 2019
File:
PDF, 3.41 MB
english, 2019
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