A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2

✍ Scribed by Lehmann, Katarina; Seemann, Petra; Boergermann, Jan; Morin, Gilles; Reif, Silke; Knaus, Petra; Mundlos, Stefan

• Book ID: 110026809
• Publisher: Nature Publishing Group
• Year: 2006
• Tongue: English
• Weight: 213 KB
• Volume: 14
• Category: Article
• ISSN: 1018-4813
• DOI: 10.1038/sj.ejhg.5201708