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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

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 deve...

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Detalles Bibliográficos
Autores principales:	Karolak, Justyna A., Gambin, Tomasz, Honey, Engela M., Slavik, Tomas, Popek, Edwina, Stankiewicz, Paweł
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060516/ https://www.ncbi.nlm.nih.gov/pubmed/32143628 http://dx.doi.org/10.1186/s12920-020-0701-6

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