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Favorable Growth Hormone Treatment Response in a Young Boy with Achondroplasia
BACKGROUND: Achondroplasia is a skeletal dysplasia, the most common cause of rhizomelic dwarfism. CASE PRESENTATION: This is a ten year old boy who was first diagnosed prenatally. He had a mutation c1138G>A in the gene FGFR3 in a heterozygotic constellation. His IGF1 and IGFBP3 levels were normal...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
AVICENA, d.o.o., Sarajevo
2016
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4851542/ https://www.ncbi.nlm.nih.gov/pubmed/27147792 http://dx.doi.org/10.5455/medarh.2016.70.148-150 |