Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort

BACKGROUND: The RASopathies are a class of developmental disorders caused by germline mutations in the RAS-mitogen-activated protein kinase (MAPK) pathway. Hypertrophic cardiomyopathy (HCM) has been frequently described in children with RASopathy, but only a minority of patients have received formal...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Chen, Hao, Li, Xin, Liu, Xiaoliang, Wang, Jian, Zhang, Zhen, Wu, Jinjin, Huang, Meirong, Guo, Ying, Li, Fen, Wang, Xiumin, Fu, Lijun
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6367752/
https://ncbi.nlm.nih.gov/pubmed/30732632
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1010-z
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados