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Diagnosis of Achondroplasia at Birth: A Case Report
Autosomal dominant mutations in fibroblast growth factor receptor 3 cause achondroplasia, the most common form of dwarfism in humans. Achondroplasia is a genetic disorder causing rhizomelic shortening of limbs. Head is often large with prominent forehead causing vaginal delivery difficult. A twenty-...
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| Publicat a: | JNMA J Nepal Med Assoc |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Journal of the Nepal Medical Association
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7654452/ https://ncbi.nlm.nih.gov/pubmed/32335626 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.31729/jnma.4846 |
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