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 genetics of craniosynostosis.

Current opinion in pediatrics - 1 Dec 2017

Wilkie Andrew O M, Johnson David, Wall Steven A

Abstract excerpt

PURPOSE OF REVIEW: When providing accurate clinical diagnosis and genetic counseling in craniosynostosis, the challenge is heightened by knowledge that etiology in any individual case may be entirely genetic, entirely environmental, or anything in between. This review will scope out how recent genetic discoveries from next-generation sequencing have impacted on the clinical genetic evaluation of craniosynostosis....

Read the complete abstract on PubMed

Topics

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

Share to Craniosynostoses
Share to Exome Sequencing
Share to Genetic Counseling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Markers

Share to Genetic Predisposition to Disease

Share to Genetic Testing

Share to High-Throughput Nucleotide Sequencing

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 28914635
DOI: 10.1097/MOP.0000000000000542
PMCID: PMC5681249

Genes

CDC45
ERF
SMAD6
SMO
TCF12

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

Clinical genetics of craniosynostosis.PMID 28914635Read ↗

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

Genetics of craniosynostosis: review of the literature.Semantic proximity Read ↗

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

Craniosynostosis syndromes in the genomic era.Semantic proximity Read ↗

Molecular Mechanisms Involved in Craniosynostosis.Semantic proximity Read ↗

Genetics of Nonsyndromic Craniosynostosis.Semantic proximity Read ↗

The clinical manifestations, molecular mechanisms and treatment of craniosynostosis.Semantic proximity Read ↗

Genetic advances in craniosynostosis.Semantic proximity Read ↗

Genetic basis of potential therapeutic strategies for craniosynostosis.Semantic proximity Read ↗

De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.Semantic proximity Read ↗

Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.Semantic proximity Read ↗

Craniosynostosis.Semantic proximity Read ↗

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