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

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

Abstract 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...

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Bibliographic Details
Main Authors: Martin Pesl, Hana Verescakova, Linda Skutkova, Jana Strenkova, Pavel Krejci
Format: Article
Language:English
Published: BMC 2022-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Skeletal dysplasia
Achondroplasia
FGFR3
Treatment
Registry
ReACH
Online Access:https://doi.org/10.1186/s13023-022-02374-x

Internet

https://doi.org/10.1186/s13023-022-02374-x

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