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Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients

BACKGROUND: Cornelia de Lange syndrome (CdLS), a rare, multisystemic disorder, has been linked to genetic alterations in NIPBL, SMC1A, SMC3, HDAC8, and RAD21 genes. Approximately 60% of CdLS patients harbor various NIPBL variants. Genetic changes predicted to affect NIPBL gene splicing represent 15%...

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Detalles Bibliográficos
Autores principales:	Krawczynska, Natalia, Wierzba, Jolanta, Jasiecki, Jacek, Wasag, Bartosz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318863/ https://www.ncbi.nlm.nih.gov/pubmed/30606125 http://dx.doi.org/10.1186/s12881-018-0738-y

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