Article
Diagnostic journey for individuals with Fibrous Dysplasia / McCune Albright syndrome (FD/MAS)
2023-08-17
Abstract excerpt
<title>Abstract</title> <p>Background Reducing delayed diagnosis is a significant healthcare priority for individuals with rare diseases. Fibrous Dysplasia/ McCune Albright Syndrome (FD/MAS) is a rare bone disease caused by somatic activation mutations of <italic>GNASa.</italic> FD/MAS has a broad clinical phenotype reflecting variable involvement of bone, endocrine and other tissues, distribution and severity....
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Identifiers and source
- Literature Corpus work
- f70f0a0e-122c-5b6e-81d2-995f5a80ae99
- DOI
- 10.21203/rs.3.rs-3124407/v1
