𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta

✍ Scribed by Rubinato, Elisa; Morgan, Anna; D'Eustacchio, Angela; Pecile, Vanna; Gortani, Giulia; Gasparini, Paolo; Faletra, Flavio


Book ID
122275191
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
748 KB
Volume
545
Category
Article
ISSN
0378-1119

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Identification of a mutation causing def
✍ VΓ­ctor MartΓ­nez-Glez; Maria Valencia; JosΓ© A. CaparrΓ³s-MartΓ­n; Mona Aglan; Samia πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 383 KB

Herein, we have studied a consanguineous Egyptian family with two children diagnosed with severe autosomal recessive osteogenesis imperfecta (AR-OI) and a large umbilical hernia. Homozygosity mapping in this family showed lack of linkage to any of the previously known AR-OI genes, but revealed a 10.