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 analysis of a fetus with Cornelia de Lange syndrome due to variant of SMC3 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2024

Huang Hui, Chen Peiwen, Feng Qian, Liu Ya, Cheng Chen, Chen Xinlin

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a fetus featuring oligodactyly. METHODS: A fetus with hand deformity identified by ultrasound at the Maternal and Child Health Care Hospital of Hubei Province on October 20, 2018 was selected as the study subject. Clinical information and ultrasonographic finding of the pregnant woman were collected. Following elected abortion, umbilical cord and peripheral venous blood...

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 Computational Biology

Share to De Lange Syndrome

Share to DNA Copy Number Variations

Share to Umbilical Cord

Source

Identifiers

PMID: 38311569
DOI: 10.3760/cma.j.cn511374-20230116-00029

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

[Genetic analysis of a fetus with Cornelia de Lange syndrome due to variant of SMC3 gene].PMID 38311569Read ↗

[Analysis of clinical phenotype and pathogenic variant of a fetus with Cornelia de Lange syndrome type II].Semantic proximity Read ↗

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

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

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

Fetal phenotype of Cornelia de Lange syndrome with a molecular confirmation.Semantic proximity Read ↗

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

[Cornelia de Lange syndrome caused by SMC1A gene variation in a child].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 ↗

Prenatal diagnosis identifies compound heterozygous variants in PKDCC that causes Rhizomelic Limb Shortening with Dysmorphic Features in a Chinese fetusSemantic proximity Read ↗

Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.Semantic proximity Read ↗

[Prenatal phenotype and genetic analysis of a fetus with Fibrochondrogenesis 1 due to compound heterozygous variants of COL11A1 gene].Semantic proximity Read ↗

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