Article
A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report.
BMC medical genomics - 6 Mar 2020
Karolak Justyna A, Gambin Tomasz, Honey Engela M, Slavik Tomas, Popek Edwina, Stankiewicz Paweł
Abstract excerpt
BACKGROUND: Application of whole genome sequencing (WGS) enables identification of non-coding variants that play a phenotype-modifying role and are undetectable by exome sequencing. Recently, non-coding regulatory single nucleotide variants (SNVs) have been reported in patients with lethal lung developmental disorders (LLDDs) or congenital scoliosis with recurrent copy-number variant (CNV) deletions at...
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