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Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

27 Jul 2022

Abstract excerpt

BACKGROUND: Achondroplasia is the most common form of skeletal dysplasia, with serious comorbidities and complications that may occur from early infancy to adulthood, requiring lifelong management from a multidisciplinary team expert in the condition The European Achondroplasia Forum guiding principles of management highlight the importance of accurate diagnosis and timely referral to a centre specialised in the...

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PMID: 35897040
DOI: 10.1186/s13023-022-02442-2

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