The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta. Academic Article

abstract

• The detailed clinical features and progress of a child with homozygous alpha 2(I) collagen deficiency are described. Clinically, the disease presents as severe progressive Sillence type III osteogenesis imperfecta. The main biochemical defect is the synthesis of an abnormal pro alpha 2(I) chain which does not associate with pro alpha 1(I) chains and therefore is not incorporated into triple helical trimers of type I procollagen which can be used to assemble collagen fibres.

published proceedings

• J Med Genet

author list (cited authors)

• Nicholls, A. C., Osse, G., Schloon, H. G., Lenard, H. G., Deak, S., Myers, J. C., ... Pope, F. M.

citation count

• 102

complete list of authors

• Nicholls, AC||Osse, G||Schloon, HG||Lenard, HG||Deak, S||Myers, JC||Prockop, DJ||Weigel, WR||Fryer, P||Pope, FM

publication date

• August 1984

publisher

• BMJ  Publisher

published in

• Journal of Medical Genetics  Journal

keywords

• Child, Preschool
• Collagen
• Homozygote
• Humans
• Male
• Osteogenesis Imperfecta
• Procollagen
• Radiography

PubMed Central ID

• 6492090

Digital Object Identifier (DOI)

• 10.1136/jmg.21.4.257

start page

• 257

end page

• 262

volume

• 21

issue

• 4

URL

• http://dx.doi.org/10.1136/jmg.21.4.257