Article
Prenatal analysis of the insulin receptor gene in a family with leprechaunism.
Prenatal diagnosis - 1 Nov 1995
Longo N, Langley S D, Still M J, Elsas L J
Abstract excerpt
Leprechaunism is an autosomal recessive disease characterized by intrauterine and postnatal growth restriction, loss of glucose homeostasis, and severe insulin resistance. This disease is caused by a failure of function of the insulin receptor and is lethal early in life. Here we report the prena...
Topics
- Abnormalities, Multiple
- Amniocentesis
- Base Sequence
- Cells, Cultured
- Consanguinity
- DNA Mutational Analysis
- Female
- Growth Disorders
- Humans
- Infant
- Insulin
- Male
- Minisatellite Repeats
- Molecular Sequence Data
- Mutation
- Pedigree
- Pregnancy
- Prenatal Diagnosis