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

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

Abstract 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 repre...

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Bibliographic Details
Main Authors: Natalia Krawczynska, Jolanta Wierzba, Jacek Jasiecki, Bartosz Wasag
Format: Article
Language:English
Published: BMC 2019-01-01
Series:BMC Medical Genetics
Subjects:
CdLS
Cornelia de Lange syndrome
NIPBL gene
Splice-site variants
Next generation sequencing
Online Access:http://link.springer.com/article/10.1186/s12881-018-0738-y

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