Article
Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation.
Human molecular genetics - 1 Sept 1998
Heaney C, Shalev H, Elbedour K, Carmi R, Staack J B, Sheffield V C, Beier D R
Abstract excerpt
Autosomal recessive osteopetrosis is a rare congenital disorder characterized by the development of abnormally dense bones, acrocephaly, severe anemia, hepatosplenomegaly and progressive deafness and blindness. The clinical course is rapidly progressive and is lethal at a very young age in the ab...
Topics
- Animals
- Child
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- Consanguinity
- Disease Models, Animal
- Female
- Genes, Recessive
- Humans
- Infant
- Lod Score
- Male
- Mice
- Microsatellite Repeats
- Mutation
- Osteopetrosis
- Osteosclerosis