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Article

Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap.

Clinical dysmorphology - 1 Jul 2010

Barton Christopher, Sweeney Elizabeth, Roberts Devender, McPartland Jo

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Share to Achondroplasia
Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Pregnancy

Share to Receptor, Fibroblast Growth Factor, Type 3

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Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 20357663
DOI: 10.1097/MCD.0b013e328337586b

Genes

FGFR3

Variants

Provenance

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Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap.PMID 20357663Read ↗

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.Semantic proximity Read ↗

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Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C.Semantic proximity Read ↗

Thanatophoric dysplasia caused by double missense FGFR3 mutations.Semantic proximity Read ↗

Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.Semantic proximity Read ↗

[From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor].Semantic proximity Read ↗

FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.Semantic proximity Read ↗

Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.Semantic proximity Read ↗

Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.Semantic proximity Read ↗

Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism.Semantic proximity Read ↗

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