Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes

✍ Scribed by A. De Paepe; Lieve Nuytinck; Marc Raes; Jean-Pierre Fryns

• Publisher: Springer
• Year: 1997
• Tongue: English
• Weight: 400 KB
• Volume: 99
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/s004390050392