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Osteogenesis Imperfecta
Brittle bone disease
Osteogenesis Imperfecta
  Discussion

Osteogenesis imperfecta (OI) is a hereditary disease occurring in humans and dogs. It is characterized by extremely fragile bones and teeth causing bones and teeth to be extremely brittle and easy to break. Joints may also be very flexible Most human and some canine OI cases are caused by mutations in the COL1A1 and COL1A2 genes encoding the subunits of collagen I...(From Drogemuller et al, 2009)

  Genetics
Inheritance
AR
OMIA
001483
OMIA Variant
000025
OMIA URL
https://omia.org/OMIA001483/9615/
OMIN
Gene
SERPINH1
Variants
g.23033735A>G; c.977T>C; p.(L326P); c.325delC
Variants Comments
  Testing
Test Types
Genetic-Genomic
Assessments
Specific Genetic Test
Assays
dwn_cnd_
Connections
Population screening for the mutation associated with osteogenesis imperfecta in dachshunds.
Reference - Journal Article
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta.
Reference - Journal Article
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