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Article

Patients carrying 9q31.1-q32 deletion share common features with Cornelia de Lange Syndrome.

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology - 1 Jan 2015

Cao Ruixue, Pu Tian, Fang Shaohai, Long Fei, Xie Jing, Xu Yuejuan, Chen Sun, Sun Kun, Xu Rang

Abstract excerpt

BACKGROUND: Cornelia de Lange Syndrome (CdLS) is a rare but severe clinically heterogeneous developmental disorder characterized by facial dysmorphia, growth and cognitive retardation, and abnormalities of limb development. OBJECTIVES: To determine the pathogenesis of a patient with CdLS. METHODS: We studied a patient with CdLS by whole exome sequencing, karyotyping and Agilent CGH Array. The results were...

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Share to Chromosomes, Human, Pair 9
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to De Lange Syndrome

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Share to High-Throughput Nucleotide Sequencing

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Source

Identifiers

PMID: 25591769
DOI: 10.1159/000369694

Genes

NIPBL
SMC2
SMC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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