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SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
Authors: 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
Date of Publication (YYYY-MM-DD): 2007-06-23
Title of Journal: Journal of Medical Genetics
Volume: 44
Start Page: 651
End Page: 656
Sequence Number of Article: 1
Document Type: Article
ID: 324398.0
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2
Authors: Lehmann, Katarina; Seemann, Petra; Boergermann, Jan; Morin, Gilles; Reif, Silke; Knaus, Petra; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2006-12
Title of Journal: European Journal of Human Genetics
Volume: 14
Issue / Number: 12
Start Page: 1248
End Page: 1254
Document Type: Article
ID: 313090.0
 
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