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

[Clinical phenotype and genetic analysis of 7 neonates with CHARGE syndrome caused by CHD7 gene variants].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 Aug 2026

Zhao Feng-Xia, Bi Shao-Hua, Wang Ying, Zhang Jian, Wang Le, Dai Li-Ying

Abstract excerpt

OBJECTIVES: To study the clinical manifestations and genetic characteristics of CHARGE syndrome (CS) in neonates with CHD7 gene variants. METHODS: A retrospective analysis was performed on 7 neonates with CS who were diagnosed and treated at Anhui ProvincialChildren's Hospital from March 2019 to August 2025. Genetic sequencing was conducted on the neonates and their parents. RESULTS: All 7 neonates presented...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to CHARGE Syndrome
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Helicases

Share to CHD7 gene

Share to CS gene

Share to Infant, Newborn

Share to Mutation

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 42608301
DOI: 10.7499/j.issn.1008-8830.2511103
PMCID: PMC13481339

Genes

CS
CHD7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical phenotype and genetic analysis of 7 neonates with CHARGE syndrome caused by CHD7 gene variants].PMID 42608301Read ↗

[Clinical phenotype and molecular genetic analysis of seven children with CHARGE syndrome].Semantic proximity Read ↗

[Clinical phenotype and analysis of CHD7 gene variants in three children patients with CHARGE syndrome].Semantic proximity Read ↗

[CHARGE syndrome in a neonate].Semantic proximity Read ↗

Phenotypic spectrum of neonatal CHARGE syndrome.Semantic proximity Read ↗

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.Semantic proximity Read ↗

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.Semantic proximity Read ↗

A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing.Semantic proximity Read ↗

A novel CHD7 variant in a chinese family with CHARGE syndrome.Semantic proximity Read ↗

[Genetic analysis of two children patients affected with CHARGE syndrome].Semantic proximity Read ↗

[Clinical and genetic analysis of two patients with CHARGE syndrome due to de novo variants of CHD7 gene].Semantic proximity Read ↗

CHARGE syndrome: a review.Semantic proximity Read ↗

Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis.Semantic proximity Read ↗

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