A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations
Open Access
- 1 December 2018
- journal article
- Published by Elsevier in Bone Reports
- Vol. 9, 132-135
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessmentAmerican Journal of Medical Genetics Part A, 2014
- Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populationsMolecular Genetics & Genomic Medicine, 2013
- A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfectaGenetics in Medicine, 2012
- PPIB Mutations Cause Severe Osteogenesis ImperfectaThe American Journal of Human Genetics, 2009
- Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylationJournal of Medical Genetics, 2008
- CRTAPandLEPRE1mutations in recessive osteogenesis imperfectaHuman Mutation, 2008
- Deficiency of Cartilage-Associated Protein in Recessive Lethal Osteogenesis ImperfectaNew England Journal of Medicine, 2006
- CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis ImperfectaCell, 2006
- The Human Genome Browser at UCSCGenome Research, 2002
- Cyclic Administration of Pamidronate in Children with Severe Osteogenesis ImperfectaNew England Journal of Medicine, 1998