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Prevalence of Mutations in the FGFR3 Gene in Individuals with Idiopathic Short Stature
FGFR3 (fibroblast growth factor receptor 3) is a gene responsible for the most common form of osteodysplasia, achondroplasia, which results in extreme short stature. An allelic disorder, hypochondroplasia, however, presents with a much milder phenotype and is sometimes indistinguishable from idiopat...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Japanese Society for Pediatric Endocrinology
2006
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004848/ https://www.ncbi.nlm.nih.gov/pubmed/24790322 http://dx.doi.org/10.1297/cpe.15.61 |