Homozygous osteogenesis imperfecta unlinked to collagen I genes.
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.
D003094:Collagen / Q000235:genetics*; D003241:Consanguinity; D008040:Genetic Linkage; D005819:Genetic Markers; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D011859:Radiography
D005819:Genetic Markers; D003094:Collagen