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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Collagen / genetics*
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Consanguinity
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Genetic Linkage*
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Genetic Markers
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Homozygote*
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Humans
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Infant, Newborn
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Male
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Osteogenesis Imperfecta / diagnostic imaging
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Osteogenesis Imperfecta / genetics*
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Pedigree
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Phenotype
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Polymorphism, Restriction Fragment Length
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Radiography