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...

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Bibliographic Details
Published in:	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
Format:	Artigo
Language:	Inglês
Published:	BioMed Central 2019
Subjects:	Research
Online Access:	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
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Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort

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