Achondrogenesis, type II

*Gene map locus 12q13.11-q13.2

ACG2

Achondrogenesis, Langer-Saldino type

Achondrogenesis-hypochondrogenesis, type II

Chondrogenesis imperfecta

[Clinical features: lethal osteochondrodysplasia; micromelic dwarfism; non-ossified sacrum, ischial, and pubic bones]

[Inheritance: autosomal dominant]


A COL2A1 Mutation in Achondrogenesis Type II Results in the Replacement of Type II Collagen by Type I and III Collagens in Cartilage	A COL2A1 Mutation in Achondrogenesis Type II Results in the Replacement of Type II Collagen by Type I and III Collagens in Cartilage	Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
Journal of Biological Chemistry	Journal of Biological Chemistry	Journal of Medical Genetics

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Edited by Aldo Campana, August 21, 2012