A new osteogenesis imperfecta with improvement over time maps to 11q.

Kamoun-Goldrat, Agnès

A new osteogenesis imperfecta with improvement over time maps to 11q. [electronic resource] - American journal of medical genetics. Part A Jul 2008 - 1807-14 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.32379 doi


Adult
Child
Chromosome Mapping
Chromosomes, Human, Pair 11--genetics
Collagen--genetics
Collagen Type I--genetics
Collagen Type I, alpha 1 Chain
Consanguinity
Female
Genes, Recessive
Genotype
Homozygote
Humans
Male
Mutation
Osteogenesis Imperfecta--classification
Pedigree
Phenotype
Radiography