Design and Baseline Demographics of a Five-Year, Multi-National Observational Cohort Study of Children With Achondroplasia (ACHieve Study)

Background: Achondroplasia (ACH) is the most common form of dwarfism occurring in 1 in 22,000 births (95% CI 18,500 to 26,000). This skeletal dysplasia is caused by a gain-of-function mutation in the fibroblast growth factor receptor 3 (FGFR3) gene located on chromosome 4p16.3 and results in sustain...

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Detalles Bibliográficos
Autores principales: Ward, Leanne M, de Bergua, Josep Maria, Robinson, Marie-Eve, Zhang, Ying, Decker, Carl, Giwa, Adebola, Charlton, R William
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089610/
http://dx.doi.org/10.1210/jendso/bvab048.1449

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089610/
http://dx.doi.org/10.1210/jendso/bvab048.1449

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