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

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

Molecular genetics & genomic medicine - 1 Oct 2020

Liu Chen, Li Xiaoying, Cui Jing, Dong Rui, Lv Yvqiang, Wang Dong, Zhang Haiyan, Li Xiaomei, Li Zilong, Ma Jian, Liu Yi, Gai Zhongtao

Abstract excerpt

BACKGROUND: Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with variable multisystem involvement and genetic heterogeneity. We aimed to analyze the clinical and genetic characteristics of Chinese individuals with CdLS. METHODS: We collected data regarding the neonatal period, maternal status, clinical manifestation, including facial dimorphisms and development, and follow-up...

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

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

Share to Chromosomal Proteins, Non-Histone

Share to De Lange Syndrome

Share to Histone Deacetylases

Share to Infant

Share to Mutation, Missense

Share to Repressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 32856424
DOI: 10.1002/mgg3.1471
PMCID: PMC7549606

Genes

HDAC8
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

Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review.PMID 32856424Read ↗

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 ↗

[Analysis of genotypes and phenotypes of three 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 ↗

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

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

Mutation analysis 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 ↗

A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review.Semantic proximity Read ↗

[Analysis of NIPBL gene mutation in a patient 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 ↗

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 ↗

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