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Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes

✍ Scribed by Pollock, P M; Gartside, M G; Dejeza, L C; Powell, M A; Mallon, M A; Davies, H; Mohammadi, M; Futreal, P A; Stratton, M R; Trent, J M


Book ID
110072524
Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
127 KB
Volume
26
Category
Article
ISSN
0950-9232

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✍ Nélio A.J. Oliveira; Luís G. Alonso; Roberto D. Fanganiello; Maria Rita Passos-B 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 131 KB 👁 1 views

## Abstract ## BACKGROUND: Pfeiffer syndrome (PS; OMIM #101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, broad thumbs, brachydactyly, broad great toes, and variable syndactyly. ## CASE: We report a case of PS (type 3) with tracheal and visceral inv