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 and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.

Gene - 30 Jan 2018

Xu Yufei, Sun Shouqing, Li Niu, Yu Tingting, Wang Xiumin, Wang Jian, Bao Nan

Abstract excerpt

Syndromic craniosynostosis is a group of multiple conditions with high heterogeneity, and many rare syndromes still remain to be characterized. To identify and analyze causative genetic variants in nine unrelated probands mainly manifested as syndromic craniosynostosis, we reviewed the relevant medical information of the patients and performed the whole exome sequencing, further verified with Sanger sequencing...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomal Proteins, Non-Histone
Share to Craniosynostoses

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

Share to Cytoskeletal Proteins

Share to De Lange Syndrome

Share to Exome Sequencing

Share to Frameshift Mutation

Share to Structural Maintenance of Chromosome Protein 1

Share to Twist-Related Protein 1

Source

Identifiers

PMID: 29037998
DOI: 10.1016/j.gene.2017.10.041

Genes

TWIST1

Variants

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

Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.PMID 29037998Read ↗

Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing.Semantic proximity Read ↗

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.Semantic proximity Read ↗

Diagnostic value of exome and whole genome sequencing in craniosynostosis.Semantic proximity Read ↗

Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.Semantic proximity Read ↗

Clinical genetics of craniosynostosis.Semantic proximity Read ↗

A novel p.Pro871Leu missense mutation in SPECC1L gene causing craniosynostosis in a patient.Semantic proximity Read ↗

A Pilot Study of Identification Genetic Background of Craniosynostosis Cases.Semantic proximity Read ↗

Clinical and molecular characterization of TCF12 variants in an Asian pediatric cohort with craniosynostosis.Semantic proximity Read ↗

Genetics of Nonsyndromic Craniosynostosis.Semantic proximity Read ↗

Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework.Semantic proximity Read ↗

Novel mutation detection in craniosynostosis promotes characterization, identification, gene expression, tissue engineering and helps clinical practice and translational research.Semantic proximity Read ↗

Multi-Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family.Semantic proximity Read ↗

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