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

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), café‐au‐la...

Descripción completa

Detalles Bibliográficos
Autores principales: Corsi, Alessandro, Cherman, Natasha, Donaldson, David L, Robey, Pamela G, Collins, Michael T, Riminucci, Mara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Special Issue
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6715781/
https://www.ncbi.nlm.nih.gov/pubmed/31485549
http://dx.doi.org/10.1002/jbm4.10134

Ejemplares similares

Ejemplares similares