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 NIPBL gene mutation in a patient with Cornelia de Lange syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2018

Mei Jin, Wang Min, Wang Xiaohua, Yao Juan

Abstract excerpt

OBJECTIVE: To analyze the genotype-phenotype correlation in a case with Cornelia de Lange syndrome (CdLS). METHODS: Genetic testing was carried out for a baby girl born by Cesarean section. The patient had clinical features including peculiar face, long bushy eyebrows, hypertelorism, wide sagittal suture, low-set ears, retrognathia, polydactyly and polysyndactyly of first toes, weak cry, poor suck and slow...

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 Cesarean Section

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

Share to De Lange Syndrome

Share to Frameshift Mutation

Share to Infant, Newborn

Share to Pregnancy

Share to Proteins

Share to Sequence Deletion

Source

Identifiers

PMID: 30098256
DOI: 10.3760/cma.j.issn.1003-9406.2018.04.022

Genes

NIPBL
RAD21
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 NIPBL gene mutation in a patient with Cornelia de Lange syndrome].PMID 30098256Read ↗

[Genetic variant analysis of a neonate 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 ↗

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

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

NIPBL gene responsible for Cornelia de Lange syndrome, a severe developmental disorder.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 ↗

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 ↗

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

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

A novel mutation in NIPBL in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death. [Corrected].Semantic proximity Read ↗

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