Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively
Abstract
PurposeOsteogenesis imperfecta (OI) is a heritable skeletal dysplasia. Dominant pathogenic variants in COL1A1 and COL1A2 explain the majority of OI cases. At least 15 additional genes have been identified, but those still do not account for all OI phenotypes that present. We sought the genetic cause of mild and lethal OI phenotypes in an unsolved family.MethodsWe performed exome sequencing on seven members of the family, both affected and...
Paper Details
Title
Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively
Published Date
Apr 1, 2018
Journal
Volume
20
Issue
4
Pages
411 - 419
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