Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case

BACKGROUND: Melorheostosis (MEL) is an exceptionally rare sclerosing bone dysplasia with asymmetrically exuberant bone formation and soft tissue lesions in a segmental distribution. We aimed to summarize the clinical characteristics of Chinese MEL patients and identify their pathogenic cause. METHOD...

Descripción completa

Detalles Bibliográficos
Autores principales: Han, Xiaojun, Xu, Yang, Wei, Zhanying, Wang, Chun, Yue, Hua, Zhang, Zhenlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544224/
https://www.ncbi.nlm.nih.gov/pubmed/36004822
http://dx.doi.org/10.1002/mgg3.2043

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544224/
https://www.ncbi.nlm.nih.gov/pubmed/36004822
http://dx.doi.org/10.1002/mgg3.2043

Ejemplares similares