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Article

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

Orphanet journal of rare diseases - 16 Jun 2022

Pesl Martin, Verescakova Hana, Skutkova Linda, Strenkova Jana, Krejci Pavel

Abstract excerpt

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 total of six other inhibitors of FGFR3 signaling are currently undergoing clinical evaluation for ACH. This progress...

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Identifiers

PMID: 35710503
DOI: 10.1186/s13023-022-02374-x
PMCID: PMC9205086

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