Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

Cornelia de Lange syndrome (CdLS) is a rare genetically heterogeneous disorder with a high phenotypic variability including mental retardation, developmental delay, and limb malformations. The genetic causes in about 30% of patients with CdLS are still unknown. We report on the functional characteri...

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Gepubliceerd in:Biomed Res Int
Hoofdauteurs: Teresa-Rodrigo, María E., Eckhold, Juliane, Puisac, Beatriz, Pozojevic, Jelena, Parenti, Ilaria, Baquero-Montoya, Carolina, Gil-Rodríguez, María C., Braunholz, Diana, Dalski, Andreas, Hernández-Marcos, María, Ayerza, Ariadna, Bernal, María L., Ramos, Feliciano J., Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Pié, Juan, Kaiser, Frank J.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Hindawi Publishing Corporation 2016
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4746300/
https://ncbi.nlm.nih.gov/pubmed/26925417
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/8742939
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