A registry of achondroplasia: a 6-year experience from the Czechia and Slovak Republic

BACKGROUND: Achondroplasia (ACH) is one of the most prevalent genetic forms of short-limbed skeletal dysplasia, caused by gain-of-function mutations in the receptor tyrosine kinase FGFR3. In August 2021, the C-type natriuretic peptide (CNP) analog vosoritide was approved for the treatment of ACH. A...

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Detalles Bibliográficos
Autores principales: Pesl, Martin, Verescakova, Hana, Skutkova, Linda, Strenkova, Jana, Krejci, Pavel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205086/
https://www.ncbi.nlm.nih.gov/pubmed/35710503
http://dx.doi.org/10.1186/s13023-022-02374-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205086/
https://www.ncbi.nlm.nih.gov/pubmed/35710503
http://dx.doi.org/10.1186/s13023-022-02374-x

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