Recent advances in RASopathies

RASopathies or RAS/mitogen-activated protein kinase (MAPK) syndromes are a group of phenotypically overlapping syndromes caused by germline mutations that encode components of the RAS/MAPK signaling pathway. These disorders include neurofibromatosis type I, Legius syndrome, Noonan syndrome, Noonan s...

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Vydané v:	Journal of human genetics Ročník 61; číslo 1; s. 33 - 39
Hlavní autori:	Aoki, Yoko, Niihori, Tetsuya, Inoue, Shin-ichi, Matsubara, Yoichi
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	England Nature Publishing Group 01.01.2016
Predmet:	Cardiovascular Abnormalities - genetics Germ-Line Mutation Humans MAP Kinase Signaling System - genetics Noonan Syndrome - genetics ras Proteins - genetics Syndrome
ISSN:	1434-5161, 1435-232X, 1435-232X
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