Associated Papers
A homozygous SP7/OSX mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies.
Al-Mutairi DA et al.
Jbmr Plus, 2024
Long-term follow-up of severe autosomal recessive SP7-related bone disorder.
Gauthier LW et al.
Bone, 2024
Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment.
Fiscaletti M et al.
Bone, 2018
Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia.
Kang H et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2017
Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.
Hu J et al.
Molecular Cytogenetics, 2017
Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.
Marini JC et al.
Current Opinion in Pediatrics, 2014
Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster.
Peterson JF et al.
American Journal of Medical Genetics. Part A, 2014
New genes in bone development: what's new in osteogenesis imperfecta.
Marini JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay.
Okamoto N et al.
American Journal of Medical Genetics. Part A, 2011
Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.
Lapunzina P et al.
American Journal of Human Genetics, 2010
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