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• W2136076252 abstract "Abstract The RASopathies, one of the largest groups of multiple congenital anomaly syndromes known, are caused by germline mutations in various genes encoding components of the Ras/mitogen‐activated protein kinase (MAPK) pathway. The RASopathies have many overlapping characteristics, including craniofacial manifestations, cardiac malformations, cutaneous, musculoskeletal, gastrointestinal, and ocular abnormalities, neurocognitive impairment, hypotonia, and an increased risk of developing cancer. Costello syndrome (CS) and cardio‐facio‐cutaneous (CFC) syndrome are two of the more rare RASopathies. CS is caused by activating mutations in HRAS , and CFC is caused by dysregulation of signaling in the Ras/MAPK pathway due to mutations in BRAF , MEK1, or MEK2 . The Ras/MAPK pathway, which has been well‐studied in cancer, is an attractive target for inhibition in the treatment of various malignancies utilizing small molecule therapeutics that specifically inhibit the pathway. With many inhibitors of the Ras/MAPK pathway in clinical trials, the notion of using these molecules to ameliorate developmental defects in CS and CFC is under consideration. CS and CFC, like other syndromes in their class, have a progressive phenotype and may be amenable to inhibition or normalization of signaling. © 2011 Wiley‐Liss, Inc." @default.
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• W2136076252 date "2011-04-14" @default.
• W2136076252 modified "2023-10-17" @default.
• W2136076252 title "Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies" @default.
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• W2136076252 doi "https://doi.org/10.1002/ajmg.c.30294" @default.
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