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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...

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Detalles Bibliográficos
Autores principales: Krstevska-Konstantinova, Marina, Stamatova, Ana, Gucev, Zoran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AVICENA, d.o.o., Sarajevo 2016
Materias:
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

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