Case Reports
doi: 10.1007/BF00291667.
Homozygous osteogenesis imperfecta unlinked to collagen I genes
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- PMID: 2894346
- DOI: 10.1007/BF00291667
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Case Reports
Homozygous osteogenesis imperfecta unlinked to collagen I genes
Hum Genet.
1988 Mar.
Abstract
In a consanguineous pedigree in which a severe type of osteogenesis imperfecta was segregating as an autosomal recessive trait, analysis of genetic markers for both collagen I structural loci COL1A1 and COL1A2 showed that the phenotype was unlinked to either locus.
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