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

• मुख्य लेखकों: Justyna A. Karolak (लेखक), Tomasz Gambin (लेखक), Engela M. Honey (लेखक), Tomas Slavik (लेखक), Edwina Popek (लेखक), Paweł Stankiewicz (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract 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 l...