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Article

Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis.

Journal of medical genetics - 1 Oct 2002

Schindler S, Friedrich M, Wagener H, Lorenz B, Preising M N

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Share to Cranial Sutures
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 3

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Identifiers

PMID: 12362036
DOI: 10.1136/jmg.39.10.764
PMCID: PMC1734995

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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.

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Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis.PMID 12362036Read ↗

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Clinical spectrum of fibroblast growth factor receptor mutations.Semantic proximity Read ↗

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.Semantic proximity Read ↗

[On the effect of mutations of the fibroblast growth factor receptors as exemplified by three cases of craniosynostoses].Semantic proximity Read ↗

FGFR3 P250R Mutation Increases the Risk of Reoperation in Apparent ‘Nonsyndromic’ Coronal CraniosynostosisSemantic proximity Read ↗

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Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.Semantic proximity Read ↗

A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.Semantic proximity Read ↗

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