## Abstract Cranial base abnormalities are an important complication of osteogenesis imperfecta (OI), a hereditary bone fragility disorder that in most patients is caused by mutations affecting collagen type I. To elucidate which clinical characteristics are associated with the occurrence of crania
✦ LIBER ✦
Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta
✍ Scribed by Frank Rauch; Liljana Lalic; Peter Roughley; Francis H Glorieux
- Book ID
- 111485906
- Publisher
- American Society for Bone and Mineral Research
- Year
- 2009
- Tongue
- English
- Weight
- 237 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0884-0431
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Cranial base abnormalities in osteogenes
✍
Moira S Cheung; Heidi Arponen; Peter Roughley; Michel E Azouz; Francis H Glorieu
📂
Article
📅
2011
🏛
American Society for Bone and Mineral Research
🌐
English
⚖ 270 KB
Genotype–phenotype correlations and phar
✍
K. Lindahl; C.-J. Rubin; E. Åström; B. Malmgren; A. Kindmark; Ö. Ljunggren⁎
📂
Article
📅
2012
🏛
Elsevier Science
🌐
English
⚖ 74 KB
The sagittal balance of the spine in chi
✍
Karimane Abelin; Raphaël Vialle; Thibault Lenoir; Camille Thévenin-Lemoine; Jean
📂
Article
📅
2008
🏛
Springer
🌐
English
⚖ 346 KB
Long-bone changes after pamidronate disc
✍
Frank Rauch; Sylvie Cornibert; Moira Cheung; Francis H. Glorieux
📂
Article
📅
2007
🏛
Elsevier Science
🌐
English
⚖ 575 KB
Osteogenesis imperfecta: Mosaicism and r
✍
Allan M. Lund; Eva Åström; Stefan Söderhäll; Marianne Schwartz; Flemming Skovby
📂
Article
📅
1999
🏛
John Wiley and Sons
🌐
English
⚖ 19 KB
👁 2 views
Non-lethal OI III (OMIM 259420) is caused by structural aberrations of collagen I. We report four novel glycine substitutions, one in the α α1(I) chain of collagen I (G688S) and three in the α α2(I) chain (G241D, G247C, G883V). In each of two families (G241D and G883V), we found parental mosaicism f
Vertebral morphometry in children and ad
✍
Christof Land; Frank Rauch; Craig F. Munns; Solmaz Sahebjam; Francis H. Glorieux
📂
Article
📅
2006
🏛
Elsevier Science
🌐
English
⚖ 278 KB