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Article

Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

Journal of medical genetics - 1 Aug 1997

Golla A, Lichmer P, von Gernet S, Winterpacht A, Fairley J, Murken J, Schuffenhauer S

Abstract excerpt

The craniosynostosis syndromes are a heterogeneous group of sporadic, autosomal dominant disorders with significant clinical overlap. Recently, we described a large family with autosomal dominant craniosynostosis suggestive of Saethre-Chotzen syndrome, in which linkage to the Saethre-Chotzen synd...

Topics

Craniosynostoses
Female
Genetic Linkage
Humans
Infant
Infant, Newborn
Male
Mutation
Pedigree
Phenotype
Protein-Tyrosine Kinases
Receptor, Fibroblast Growth Factor, Type 3

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, Fibroblast Growth Factor

Source

Open in PubMed Open full text

Identifiers

PMID: 9279764
DOI: 10.1136/jmg.34.8.683
PMCID: PMC1051034

Genes

FGFR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9279764-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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