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Article

FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset.

Orphanet journal of rare diseases - 2 Jul 2016

Yuan Haiming, Huang Linhuan, Hu Xizi, Li Qian, Sun Xiaofang, Xie Yingjun, Kong Shu, Wang Xiaoman

Abstract excerpt

BACKGROUND: Achondroplasia is a well-defined and common bone dysplasia. Genotype- and phenotype-level correlations have been found between the clinical symptoms of achondroplasia and achondroplasia-specific FGFR3 mutations. RESULT: A 2-year-old boy with clinical features consistent with achondroplasia and Silver-Russell syndrome-like symptoms was found to carry a mutation in the fibroblast growth factor...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 3

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Source

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Identifiers

PMID: 27370225
DOI: 10.1186/s13023-016-0465-4
PMCID: PMC4930580

Genes

FGFR3
GRB10
IGF1
IGFBP3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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