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Article

Genetic analysis of patients with the Saethre-Chotzen phenotype.

American journal of medical genetics - 15 Jun 2002

Chun Kathy, Teebi Ahmad S, Jung Jack H, Kennedy Shelley, Laframboise Rachel, Meschino Wendy S, Nakabayashi Kazuhiko, Scherer Stephen W, Ray Peter N, Teshima Ikuko

Abstract excerpt

Saethre-Chotzen syndrome is a common craniosynostosis syndrome characterized by craniofacial and limb anomalies. Intragenic mutations of the TWIST gene within 7p21 have been identified as a cause of this disorder. There is phenotypic overlap with other craniosynostosis syndromes, and intragenic mutations in FGFR2 (fibroblast growth factor receptor 2) and FGFR3 (fibroblast growth factor receptor 3) have been...

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Source

Identifiers

PMID: 12116251
DOI: 10.1002/ajmg.10400

Genes

FGFR3
FGFR2

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic analysis of patients with the Saethre-Chotzen phenotype.PMID 12116251Read ↗

Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.Semantic proximity Read ↗

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.Semantic proximity Read ↗

Mutations in the human TWIST gene.Semantic proximity Read ↗

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.Semantic proximity Read ↗

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.Semantic proximity Read ↗

Mutations of the TWIST gene in the Saethre-Chotzen syndrome.Semantic proximity Read ↗

Saethre–Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH.Semantic proximity Read ↗

Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity.Semantic proximity Read ↗

The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases.Semantic proximity Read ↗

Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.Semantic proximity Read ↗

Saethre-Chotzen syndrome: a case report.Semantic proximity Read ↗

Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.Semantic proximity Read ↗

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