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
10.1155/2016/8742939
Biomed Res Int
2016;2016:8742939.
CC BY
https://pubmed.ncbi.nlm.nih.gov/26925417/
De Lange Syndrome / genetics Genetic Heterogeneity Proteins / genetics
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
PMC4746300
26925417
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome
2016