Neonatal McCune‐Albright Syndrome: A Unique Syndromic Profile With an Unfavorable Outcome

Neonatal McCune‐Albright Syndrome: A Unique Syndromic Profile With an Unfavorable Outcome

ABSTRACT Somatic gain‐of‐function mutations of GNAS cause a spectrum of clinical phenotypes, ranging from McCune‐Albright syndrome (MAS) to isolated disease of bone, endocrine glands, and more rarely, other organs. In MAS, a syndrome classically characterized by polyostotic fibrous dysplasia (FD), c...

Full description

Bibliographic Details
Main Authors: Alessandro Corsi, Natasha Cherman, David L Donaldson, Pamela G Robey, Michael T Collins, Mara Riminucci
Format: Article
Language:English
Published: Wiley 2019-08-01
Series:JBMR Plus
Subjects:
MCCUNE‐ALBRIGHT SYNDROME
GNAS
CUSHING SYNDROME
CHOLESTASIS
NEONATAL
Online Access:https://doi.org/10.1002/jbm4.10134

Internet

https://doi.org/10.1002/jbm4.10134

Similar Items