TY - JOUR AU - Krawczynska, Natalia AU - Wierzba, Jolanta AU - Jasiecki, Jacek AU - Wasag, Bartosz PY - 2019 DA - 2019/01/03 TI - Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients JO - BMC Medical Genetics SP - 1 VL - 20 IS - 1 AB - 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% of all NIPBL genetic abnormalities. Yet, only a few studies have investigated the molecular consequences of such variants. SN - 1471-2350 UR - https://doi.org/10.1186/s12881-018-0738-y DO - 10.1186/s12881-018-0738-y ID - Krawczynska2019 ER -