A Literature Review and Pooled Case Analysis of Cardiofaciocutaneous Syndrome to Estimate Cancer Risk
癌症
医学
合并分析
荟萃分析
内科学
作者
Jazmyn Bess,Toniya Brown,Sonia Bhala,Anaqa Faizer,Muzzammil Ahmadzada,Alicia A. Livinski,Alex Pemov,Jung Kim,Philip S. Rosenberg,Gina M. Ney,Douglas R. Stewart
出处
期刊:Cold Spring Harbor Laboratory - medRxiv日期:2024-08-10
Cardiofaciocutaneous syndrome (CFC) is a rare disorder with multiple congenital anomalies including macrocephaly, failure to thrive, and neurocognitive delay. CFC is part "RASopathy" syndromes caused by pathogenic germline variants in