OI - Osteogenesis Imperfecta/Générique

Extremely fragile bones and teeth

Description: 
Involved protein participates in the collagen synthesis, which is critical for the proper development of the bones
Symptomes: 
Spontaneous bone and teeth fractures, joint hyperlaxity, possibly hearing loss, dwarfism and dentinogenesis imperfecta
Age d'aparition: 
From birth
Fréquence: 
12% carriers in European Wire-haired Dachshund
Gène impliqué: 
SERPINH1
Mutation testée: 
c.977C>T
Transmission: 
Autosomal Recessive
Brevet: 
_
Remarques: 
_