Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.

BMC pediatrics - 16 Feb 2018

Hei Mingyan, Gao Xiangyu, Wu Lingqian

Abstract excerpt

BACKGROUND: Cornelia de Lange syndrome (CdLS) is a rare congenital syndrome with no racial difference. The objective of this study is to report the clinical characteristics and genetic study of 20 CdLS cases from China. METHODS: This is an observational study. Suspected patients were referred for further confirmation, clinical treatment, and genetic testing under voluntary condition. Demographic data and family...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Cycle Proteins
Share to Chondroitin Sulfate Proteoglycans
Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to De Lange Syndrome

Share to DNA Copy Number Variations

Share to Proteins

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to Structural Maintenance of Chromosome Protein 1

Source

Open in PubMed Open full text

Identifiers

PMID: 29452578
DOI: 10.1186/s12887-018-1004-3
PMCID: PMC5815176

Genes

NIPBL
SMC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.PMID 29452578Read ↗

Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review.Semantic proximity Read ↗

Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.Semantic proximity Read ↗

A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort.Semantic proximity Read ↗

Mutation analysis in Chinese patients with Cornelia de Lange syndrome.Semantic proximity Read ↗

[Analysis of genotypes and phenotypes of three children with Cornelia de Lange syndrome].Semantic proximity Read ↗

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.Semantic proximity Read ↗

[Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome].Semantic proximity Read ↗

Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations.Semantic proximity Read ↗

[Cornelia de Lange syndrome: report of a case and the review of literature on 17 cases].Semantic proximity Read ↗

[Genetic variant analysis of a neonate with Cornelia de Lange syndrome].Semantic proximity Read ↗

Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.Semantic proximity Read ↗

[Analysis of NIPBL gene mutation in a patient with Cornelia de Lange syndrome].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.