A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant

Craniofacial dysmorphism, cardiac abnormalities, ectodermal abnormalities, psychomotor delay, intellectual disability, and short stature are all hallmarks of the extremely rare disorder known as cardiofaciocutaneous syndrome (CFCS). Although CFCS is considered rare, approximately 300 cases have been...

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Detalles Bibliográficos
Autores principales: Tang, Qiong, Gong, Dai, Ye, Xiao-Min, Xu, Jun-Ru, Yang, Yi-Can, Yan, Li-Juan, Zou, Li, Wen, Xiang-Lan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10497045/
https://www.ncbi.nlm.nih.gov/pubmed/37705935
http://dx.doi.org/10.2147/PGPM.S411964

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10497045/
https://www.ncbi.nlm.nih.gov/pubmed/37705935
http://dx.doi.org/10.2147/PGPM.S411964

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