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10.1016/j.ppedcard.2015.01.002

http://scihub22266oqcxt.onion/10.1016/j.ppedcard.2015.01.002
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C4568836!4568836!26380542
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suck abstract from ncbi


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pmid26380542      Prog+Pediatr+Cardiol 2015 ; 39 (1): 13-9
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  • Cardiomyopathies in Noonan syndrome and the other RASopathies #MMPMID26380542
  • Gelb BD; Roberts AE; Tartaglia M
  • Prog Pediatr Cardiol 2015[Jul]; 39 (1): 13-9 PMID26380542show ga
  • Noonan syndrome and related disorders (Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with loose anagen hair, and other related traits) are autosomal dominant traits. Mutations causing these disorders alter proteins relevant for signaling through RAS. Thus, these traits are now collectively called the RASopathies. While the RASopathies have pleiomorphic features, this review will focus on the hypertrophic cardiomyopathy observed in varying percentages of all of these traits. In addition, inherited abnormalities in one pathway gene, RAF1, cause pediatric-onset dilated cardiomyopathy. The pathogeneses for the RASopathy-associated cardiomyopathies are being elucidated, principally using animal models, leading to genotype-specific insights into how signal transduction is perturbed. Based on those findings, small molecule therapies seem possible for RASopathy-associated cardiomyopathies.
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