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Article

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.

American journal of medical genetics. Part A - 1 Nov 2015

Takagi Masaki, Kouwaki Masanori, Kawase Koya, Shinohara Hiroyuki, Hasegawa Yukihiro, Yamada Takahiro, Fujiwara Ikuma, Sawai Hideaki, Nishimura Gen, Hasegawa Tomonobu

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Share to Achondroplasia
Share to Amino Acid Substitution
Share to Bone Diseases, Developmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Radiography

Share to Receptor, Fibroblast Growth Factor, Type 3

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Identifiers

PMID: 26126848
DOI: 10.1002/ajmg.a.37231

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.PMID 26126848Read ↗

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Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.Semantic proximity Read ↗

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[Association of achondroplasia to a mutation in the transmembrane domain of fibroblastic growth factor receptor 3 (FGFR3)].Semantic proximity Read ↗

Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene.Semantic proximity Read ↗

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