Diagnostic journey for individuals with fibrous dysplasia / McCune albright syndrome (FD/MAS)

Diagnostic journey for individuals with fibrous dysplasia / McCune albright syndrome (FD/MAS)

Abstract 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 variabl...

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Bibliographic Details
Main Authors: Kaiyang Song, Roshi Shrestha, Heather Delaney, Rohit Vijjhalwar, Alison Turner, Maria Sanchez, Muhammad Kassim Javaid
Format: Article
Language:English
Published: BMC 2024-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Fibrous dysplasia
McCune -Albright Syndrome
Diagnosis
Epidemiology
Online
Online Access:https://doi.org/10.1186/s13023-024-03036-w

Internet

https://doi.org/10.1186/s13023-024-03036-w

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