article_metadata: María E Teresa-Rodrigo Juliane Eckhold Beatriz Puisac Jelena Pozojevic Ilaria Parenti Carolina Baquero-Montoya María C Gil-Rodríguez Diana Braunholz Andreas Dalski María Hernández-Marcos Ariadna Ayerza María L Bernal Feliciano J Ramos Dagmar Wieczorek Gabriele Gillessen-Kaesbach Juan Pié Frank J Kaiser
article_metadata: 10.1155/2016/8742939
article_metadata: Biomed Res Int
article_metadata: 2016;2016:8742939.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/26925417/
article_metadata: De Lange Syndrome / genetics Genetic Heterogeneity Proteins / genetics
article_metadata: De Lange Syndrome / genetics Genetic Heterogeneity Proteins / genetics Case Reports Research Support, Non-U.S. Gov't Cell Cycle Proteins Child De Lange Syndrome / pathology Exons Female Frameshift Mutation / genetics Hep G2 Cells Humans Introns Male Pedigree RNA Splicing / genetics Cell Cycle Proteins NIPBL protein, human Proteins
article_metadata: PMC4746300
article_metadata: 26925417
article_metadata: Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome
article_metadata: 2016