Article

A Literature Review and Pooled Case Analysis of Cardiofaciocutaneous Syndrome to Estimate Cancer Risk

2024-08-10

Abstract excerpt

<h4>Background</h4> 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 BRAF, KRAS, MAP2K1, and MAP2K2. To estimate cancer risk in CFC we conducted a systematic review using case reports and series. <h4>Methods</h4> We reviewed articl...

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Literature Corpus work: b813eba0-6590-5e9b-893c-f3a6b024f38d
DOI: 10.1101/2024.08.09.24311751

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