✦ LIBER ✦

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

✍ Scribed by Pyott, Shawna M.; Tran, Thao T.; Leistritz, Dru F.; Pepin, Melanie G.; Mendelsohn, Nancy J.; Temme, Renee T.; Fernandez, Bridget A.; Elsayed, Solaf M.; Elsobky, Ezzat; Verma, Ishwar; Nair, Sreelata; Turner, Emily H.; Smith, Joshua D.; Jarvik, Gail P.; Byers, Peter H.

Book ID: 120045528
Publisher: American Society of Human Genetics
Year: 2013
Tongue: English
Weight: 749 KB
Volume: 92
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2013.02.009

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Combined effect of a null allele and a n

Combined effect of a null allele and a non-collagenous insertion in COL1A1 mRNA is responsible for the severe phenotype in a family affected by osteogenesis imperfecta

✍ A. Forlino; Q. Wang; J.C. Marini 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 108 KB

Homozygosity by descent for a COL1A2 mut

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

✍ A. De Paepe; Lieve Nuytinck; Marc Raes; Jean-Pierre Fryns 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 400 KB