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

Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.

Molecular genetics & genomic medicine - 1 May 2024

Lei Zhi, Song Xiaorui, Zheng Xuan, Wang Yanhong, Wang Yingyuan, Wu Zhirong, Fan Tian, Dong Shijie, Cao Honghui, Zhao Yuefang, Xia Zhiyi, Gao Liujiong, Shang Qing, Mei Shiyue

Abstract excerpt

BACKGROUND: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder, and cases caused by variants in the structural maintenance of chromosomes protein 3 (SMC3) gene are uncommon. Here, we report two cases of CdLS associated with novel pathogenic variants in SMC3 from two Chinese families. METHODS: Clinical presentations of two patients with CdLS were evaluated, and specimens from the patients and...

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 About Contact Helena Bioinformatics

Share to Chromosomal Proteins, Non-Histone

Share to De Lange Syndrome

Share to Heterozygote

Share to Pedigree

Share to Phenotype

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 38733165
DOI: 10.1002/mgg3.2447
PMCID: PMC11087815

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.PMID 38733165Read ↗

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

Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.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 ↗

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.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 ↗

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.Semantic proximity Read ↗

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

Novel mosaic variants in two patients with Cornelia de Lange syndrome.Semantic proximity Read ↗

A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.Semantic proximity Read ↗

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

Heterozygous loss-of-function<i>SMC3</i>variants are associated with variable and incompletely penetrant growth and developmental featuresSemantic proximity Read ↗

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