Article

<i>A</i> Progeroid Syndrome Caused <i>by RAF1</i> deficiency Underscores the importance of RTK signaling for Human Development

2022-03-04

Abstract excerpt

Somatic and germline gain-of-function point mutations in RAF, the first oncogene to be discovered in humans, delineate a group of tumor-prone syndromes known as RASopathies. In this study, we document the first human phenotype resulting from the germline loss of function of the proto-oncogene RAF1 ( a.k.a. CRAF) . In a consanguineous family, we uncovered a homozygous p.Thr543Met mutation segregating with a neona...

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Literature Corpus work: f9faf214-58ac-5b09-878f-5d15135dec9f
DOI: 10.1101/2022.02.20.22271260

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