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Article

IGF1R variants associated with isolated single suture craniosynostosis.

American journal of medical genetics. Part A - 1 Jan 2011

Cunningham Michael L, Horst Jeremy A, Rieder Mark J, Hing Anne V, Stanaway Ian B, Park Sarah S, Samudrala Ram, Speltz Matthew L

Abstract excerpt

The genetic contribution to the pathogenesis of isolated single suture craniosynostosis is poorly understood. The role of mutations in genes known to be associated with syndromic synostosis appears to be limited. We present our findings of a candidate gene resequencing approach to identify rare variants associated with the most common forms of isolated craniosynostosis. Resequencing of the coding regions, splice...

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Share to Amino Acid Sequence
Share to Craniosynostoses

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genetic Association Studies

Share to Models, Molecular

Share to Mutation, Missense

Share to Protein Conformation

Share to Receptor, IGF Type 1

Source

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Identifiers

PMID: 21204214
DOI: 10.1002/ajmg.a.33781
PMCID: PMC3059230

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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.

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