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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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Publicat a:BMC Med Genet
Autors principals: Krawczynska, Natalia, Wierzba, Jolanta, Jasiecki, Jacek, Wasag, Bartosz
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2019
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6318863/
https://ncbi.nlm.nih.gov/pubmed/30606125
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0738-y
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