@article{e0b6402418fa49e2b34494e81fb918db,
title = "Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome",
abstract = "Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant disorder characterised by facial dysmorphism, growth and psychomotor developmental delay and skeletal defects. To date, causative mutations in the NIPBL (cohesin regulator) and SMC1A (cohesin structural subunit) genes account for > 50% and 6% of cases, respectively.",
keywords = "Cell Cycle Proteins, Child, Chromosomal Proteins, Non-Histone, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 17, Chromosomes, Human, Pair 19, Chromosomes, Human, Pair 4, DNA Copy Number Variations, De Lange Syndrome, Female, Gene Deletion, Genomic Instability, Humans, Male, Phenotype, Proteins, Translocation, Genetic, Young Adult, Cell Cycle Proteins, Child, Chromosomal Proteins, Non-Histone, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 17, Chromosomes, Human, Pair 19, Chromosomes, Human, Pair 4, DNA Copy Number Variations, De Lange Syndrome, Female, Gene Deletion, Genomic Instability, Humans, Male, Phenotype, Proteins, Translocation, Genetic, Young Adult",
author = "Cristina Gervasini and Chiara Picinelli and Jacopo Azzollini and Daniela Rusconi and Maura Masciadri and Anna Cereda and Cinzia Marzocchi and Giuseppe Zampino and Angelo Selicorni and Romano Tenconi and Silvia Russo and Serena Russo and Lidia Larizza and Palma Finelli",
year = "2013",
doi = "10.1186/1471-2350-14-41",
language = "English",
volume = "14",
pages = "41--41",
journal = "BMC Medical Genetics",
issn = "1471-2350",
publisher = "BIOMED CENTRAL LTD, MIDDLESEX HOUSE, 34-42 CLEVELAND ST, LONDON, ENGLAND, W1T 4LB",
}