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Article

TINAG mutation as a genetic cause of pectus excavatum.

Medical hypotheses - 1 Apr 2020

Tong Xing, Li Guangbin, Feng Yu

Abstract excerpt

To investigate the possible involvement of germline mutations in pectus excavatum (PE). We investigated a four-generation pedigree with PE. Whole-exome sequencing (WES)was performed to identify potential mutations for PE formation. Sanger sequencing was used to validate these mutations. hFOB1.19 cell proliferation was measured with a Celigo imaging cytometry system. There were four PE patients in this...

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PMID: 31981812
DOI: 10.1016/j.mehy.2020.109557

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