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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

22 Sept 2022

Abstract excerpt

Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made in a minority of EA/TEF+ cases. Here, we analyzed clinical exome sequencing data and data from the DECIPHER database to determine the efficacy of exome sequencing in cases of EA/TEF+ and to...

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PMID: 36135330
DOI: 10.1002/ajmg.a.62976

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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