Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients

Abstract Background Cardio-facio-cutaneous (CFC) syndrome is a RASopathy subtype that presents with unique craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. This study describes the phenotypic spectrum of CFC in China a...

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Bibliographic Details
Main Authors: Biyun Feng, Xin Li, Qianwen Zhang, Yirou Wang, Shili Gu, Ru-en Yao, Zhiying Li, Shiyang Gao, Guoying Chang, Qun Li, Niu Li, Lijun Fu, Jian Wang, Xiumin Wang
Format: Article
Language:English
Published: BMC 2023-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Cardio-facio-cutaneous syndrome
RASopathy
BRAF
MAP2K1/2
Online Access:https://doi.org/10.1186/s13023-023-02878-0

Internet

https://doi.org/10.1186/s13023-023-02878-0

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