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Mild osteogenesis imperfecta (OI type I and OI type IV) is characterized by postnatal onset of fractures, absence of skeletal deformity, presenile hearing loss with or without blue sclerae, and dentinogenesis imperfecta. Using one common DNA polymorphism associated with the pro alpha 2(I) human collagen gene, we found genetic heterogeneity in this disorder. In three families, the OI phenotype segregated independently of the DNA polymorphism, whereas in one family, the OI phenotype cosegregated with a DNA polymorphism in a manner suggesting linkage. Use of DNA polymorphisms associated with both type I procollagen genes should provide a tool to unravel the molecular heterogeneity of various heritable disorders of the connective tissue.
P Tsipouras, and
A L Børresen, and
L A Dickson, and
K Berg, and
D J Prockop, and
F Ramirez
January 2011,
Journal of osteoporosis,
P Tsipouras, and
A L Børresen, and
L A Dickson, and
K Berg, and
D J Prockop, and
F Ramirez
March 1986,
American journal of human genetics,
P Tsipouras, and
A L Børresen, and
L A Dickson, and
K Berg, and
D J Prockop, and
F Ramirez
January 1993,
American journal of medical genetics,
P Tsipouras, and
A L Børresen, and
L A Dickson, and
K Berg, and
D J Prockop, and
F Ramirez
January 1988,
Annals of the New York Academy of Sciences,
P Tsipouras, and
A L Børresen, and
L A Dickson, and
K Berg, and
D J Prockop, and
F Ramirez
September 1990,
Proceedings of the National Academy of Sciences of the United States of America,
P Tsipouras, and
A L Børresen, and
L A Dickson, and
K Berg, and
D J Prockop, and
F Ramirez
April 1986,
American journal of perinatology,
P Tsipouras, and
A L Børresen, and
L A Dickson, and
K Berg, and
D J Prockop, and
F Ramirez
January 1988,
Acta medica Iugoslavica,
P Tsipouras, and
A L Børresen, and
L A Dickson, and
K Berg, and
D J Prockop, and
F Ramirez
July 1986,
The Journal of biological chemistry,
P Tsipouras, and
A L Børresen, and
L A Dickson, and
K Berg, and
D J Prockop, and
F Ramirez
June 1978,
Lancet (London, England),
P Tsipouras, and
A L Børresen, and
L A Dickson, and
K Berg, and
D J Prockop, and
F Ramirez
January 1984,
British medical journal (Clinical research ed.),
