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

[Genetic variant analysis of a neonate with Cornelia de Lange syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2020

Sun Yuanyuan, Chen Cuie, Di Tianwei, Shao Haoran, Zhu Ronghe, Zhu Yanke, Zhou Aihua, Wang Qiu

Abstract excerpt

OBJECTIVE: To detect pathogenic variant in a neonate suspected for Cornelia de Lange syndrome (CdLS). METHODS: Potential mutations of CdLS-related genes (NIPBL, SMC1A, SMC3, RAD21 and HDAC8) were detected by high-throughput target region capture and next-generation sequencing. Suspected variants was verified by Sanger sequencing. RESULTS: The child was found to harbor a heterozygous splice site variant,...

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 De Lange Syndrome

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

Share to Genetic Testing

Share to Genetic Variation

Share to High-Throughput Nucleotide Sequencing

Share to Infant, Newborn

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 32219834
DOI: 10.3760/cma.j.issn.1003-9406.2020.04.021

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

[Genetic variant analysis of a neonate with Cornelia de Lange syndrome].PMID 32219834Read ↗

[Analysis of clinical manifestation and genetic mutations in two 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 ↗

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

[A case of neonatal Cornelia de Lange syndrome caused by a novel variant of SMC1A gene].Semantic proximity Read ↗

[NIPBL gene mutations in two children with Cornelia de Lange syndrome].Semantic proximity Read ↗

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 ↗

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

[Phenotypic and mutation analysis of a fetus with Cornelia de Lange syndrome Ⅰ].Semantic proximity Read ↗

[Prenatal diagnosis and genetic analysis of a fetus with Cornelia de Lange syndrome type 1 due to a splicing variant of NIPBL gene].Semantic proximity Read ↗

[Identification of a novel missense NIPBL variant in a juvenile with severe type of Cornelia de Lange syndrome].Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.Semantic proximity Read ↗

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