Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta
Osteogenesis imperfecta, discussed in Baldridge et al. 2008 is an inherited bone fragility disorder with a wide range of clinical severity that in the majority of cases is caused by mutations in COL1A1 or COL1A2, the genes that encode the two collagen type I alpha chains. Here we describe genotype-p...
Saved in:
Main Authors: | I. Mouna Ben Amor, Francis H. Glorieux, Frank Rauch |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2011-01-01
|
Series: | Journal of Osteoporosis |
Online Access: | http://dx.doi.org/10.4061/2011/540178 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Osteogenesis Imperfecta, Pseudoachalasia, and Gastric Cancer
by: Dilsa Mizrak, et al.
Published: (2015-01-01) -
Modern classification and molecular-genetic aspects of osteogenesis imperfecta
by: A. R. Zaripova, et al.
Published: (2020-04-01) -
Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings
by: Shishir Ram Shetty, et al.
Published: (2011-01-01) -
HRQoL Evaluation of Pediatric Osteogenesis Imperfecta with Zoledronic Acid Therapy
by: Tri Wahyu Martanto, et al.
Published: (2023-10-01) -
Wish Bone Day: Raising Awareness for Osteogenesis Imperfecta – Global and India
by: Yuvaraja Murugan, et al.
Published: (2023-07-01)