Clinical and Molecular Findings in Osteoporosis-Pseudoglioma Syndrome
- 1 November 2005
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 77 (5) , 741-753
- https://doi.org/10.1086/497706
Abstract
No abstract availableKeywords
This publication has 40 references indexed in Scilit:
- The ocular form of osteogenesis imperfecta: a new autosomal recessive syndromeClinical Genetics, 2008
- Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in theLRP5and/orFZD4genesHuman Mutation, 2005
- Heterozygous Mutations in the LDL Receptor-Related Protein 5 (LRP5) Gene Are Associated With Primary Osteoporosis in ChildrenJournal of Bone and Mineral Research, 2005
- Autosomal Recessive Familial Exudative Vitreoretinopathy Is Associated with Mutations in LRP5American Journal of Human Genetics, 2004
- Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11qAmerican Journal of Human Genetics, 2004
- Segregation at three loci explains familial and population risk in Hirschsprung diseaseNature Genetics, 2002
- Constitutive Transcriptional Activation by a β-Catenin-Tcf Complex in APC −/− Colon CarcinomaScience, 1997
- A mutation in the Norrie disease gene (NDP) associated with X–linked familial exudative vitreoretinopathyNature Genetics, 1993
- Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies.Journal of Medical Genetics, 1988
- Osteoporosis‐pseudoglioma or osteogenesis imperfecta?Clinical Genetics, 1986