Article
Diagnostic journey for individuals with fibrous dysplasia / McCune albright syndrome (FD/MAS).
Orphanet journal of rare diseases - 7 Feb 2024
Song Kaiyang, Shrestha Roshi, Delaney Heather, Vijjhalwar Rohit, Turner Alison, Sanchez Maria, Javaid Muhammad Kassim
Abstract excerpt
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 NASA. FD/MAS has a broad clinical phenotype reflecting variable involvement of bone, endocrine and other tissues, distribution and severity. The variable phenotype is likely to prolong...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.