SOS1 is the second most common Noonan gene but plays no major role in cardio‐facio‐cutaneous syndrome

BACKGROUND: Heterozygous gain‐of‐function mutations in various genes encoding proteins of the Ras‐MAPK signalling cascade have been identified as the genetic basis of Noonan syndrome (NS) and cardio‐facio‐cutaneous syndrome (CFCS). Mutations of SOS1, the gene encoding a guanine nucleotide exchange f...

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Hlavní autoři: Zenker, Martin, Horn, Denise, Wieczorek, Dagmar, Allanson, Judith, Pauli, Silke, van der Burgt, Ineke, Doerr, Helmuth‐Guenther, Gaspar, Harald, Hofbeck, Michael, Gillessen‐Kaesbach, Gabriele, Koch, Andreas, Meinecke, Peter, Mundlos, Stefan, Nowka, Anja, Rauch, Anita, Reif, Silke, von Schnakenburg, Christian, Seidel, Heide, Wehner, Lars‐Erik, Zweier, Christiane, Bauhuber, Susanne, Matejas, Verena, Kratz, Christian P, Thomas, Christoph, Kutsche, Kerstin
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2007
Témata:
Letter to JMG
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597961/
https://ncbi.nlm.nih.gov/pubmed/17586837
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.051276
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