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Article

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.

European journal of medical genetics - 1 Mar 2013

Gervasini Cristina, Parenti Ilaria, Picinelli Chiara, Azzollini Jacopo, Masciadri Maura, Cereda Anna, Selicorni Angelo, Russo Silvia, Finelli Palma, Larizza Lidia

Abstract excerpt

Cornelia de Lange syndrome (CdLS, OMIM #122470, #300590, #610759, #614701, #300882) is a rare neurodevelopmental syndrome characterized by growth retardation, intellectual disability, dysmorphic facial features, multisystem malformations, and limb reduction defects. Wide variability of phenotypes is common among CdLS patients. Mutations in genes encoding either regulators (NIPBL, HDAC8) or subunits (SMC1A, SMC3,...

Topics

Base Sequence
Cell Cycle Proteins
Cells, Cultured
Chromosomal Proteins, Non-Histone
De Lange Syndrome
Gene Deletion
Humans
In Situ Hybridization, Fluorescence
Infant
Lymphocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Microarray Analysis

Molecular Sequence Data

Mosaicism

Phenotype

Proteins

Sequence Analysis, DNA

Structural Maintenance of Chromosome Protein 1

Source

Identifiers

PMID: 23313159
DOI: 10.1016/j.ejmg.2012.12.009

Genes

NIPBL
HDAC8
RAD21
SMC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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