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

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 achondroplas...

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Detalles Bibliográficos
Autores principales: Yuan, Haiming, Huang, Linhuan, Hu, Xizi, Li, Qian, Sun, Xiaofang, Xie, Yingjun, Kong, Shu, Wang, Xiaoman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930580/
https://www.ncbi.nlm.nih.gov/pubmed/27370225
http://dx.doi.org/10.1186/s13023-016-0465-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930580/
https://www.ncbi.nlm.nih.gov/pubmed/27370225
http://dx.doi.org/10.1186/s13023-016-0465-4

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