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

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 and its a...

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Detalles Bibliográficos
Autores principales:	Feng, Biyun, Li, Xin, Zhang, Qianwen, Wang, Yirou, Gu, Shili, Yao, Ru-en, Li, Zhiying, Gao, Shiyang, Chang, Guoying, Li, Qun, Li, Niu, Fu, Lijun, Wang, Jian, Wang, Xiumin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496309/ https://www.ncbi.nlm.nih.gov/pubmed/37697378 http://dx.doi.org/10.1186/s13023-023-02878-0

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