Article
Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.
The Journal of pediatrics - 1 Jan 1998
Thornton P S, Satin-Smith M S, Herold K, Glaser B, Chiu K C, Nestorowicz A, Permutt M A, Baker L, Stanley C A
Abstract excerpt
We describe three families with hypoglycemia caused by familial hyperinsulinism (HI) in whom vertical transmission of the disorder occurred, suggesting autosomal dominant (AD) inheritance. We therefore examined the relationship between the apparent AD disorder and the more common autosomal recess...
Topics
- Adolescent
- Adult
- Age of Onset
- Child
- Child, Preschool
- Chromosomes, Human, Pair 11
- DNA
- Female
- Genes, Dominant
- Genes, Recessive
- Genetic Linkage
- Humans
- Hyperinsulinism
- Hypoglycemia
- Infant
- Infant, Newborn