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Diagnostic, treatment and outcome possibilities in achondroplasia
INTRODUCTION: Achondroplasia is a common form of chondrodysplasia. It is transmitted by autosomal dominant trait. The disease is determined by mutations in receptor-3 gene of the fibroblast growth factor. The most frequent mutations are c.1138G>A and c.1183G>C; c.1138A. The diagnosis can usual...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Iuliu Hatieganu University of Medicine and Pharmacy
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411826/ https://www.ncbi.nlm.nih.gov/pubmed/34527903 http://dx.doi.org/10.15386/mpr-2222 |