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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Group 2007
Pynciau:
Letter to JMG
Mynediad Ar-lein: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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