Associated Papers
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
Latorre-Pellicer A et al.
International Journal of Molecular Sciences, 2020
Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.
Tang H et al.
Orphanet Journal of Rare Diseases, 2019
Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.
Teresa-Rodrigo ME et al.
International Journal of Molecular Sciences, 2014
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.
Kuzniacka A et al.
Journal of Applied Genetics, 2013
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