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...

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Detalles Bibliográficos
Autores principales: Bucerzan, Simona, Alkhzouz, Camelia, Crisan, Mirela, Miclea, Diana, Asavoaie, Carmen, Ilies, Roxana, Grigorescu-Sido, Paula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Iuliu Hatieganu University of Medicine and Pharmacy 2021
Materias:
Articles
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

Internet

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

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