Article
Severe growth hormone insensitivity (Laron syndrome) due to nonsense mutation of the GH receptor in brothers from Russia.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000
Rosenbloom A L, Berg M A, Kasatkina E P, Volkova T N, Skorobogatova V F, Sokolovskaya V N, Francke U
Abstract excerpt
Primary GH insensitivity (Laron syndrome) due to GH receptor deficiency (GHRD) is an autosomal recessive condition characterized by severe growth failure. Diverse alterations in the GHR gene have been reported in affected individuals. We report here the first family with GHRD from Russia, with tw...
Topics
- Base Sequence
- Child, Preschool
- Codon, Nonsense
- Genes, Recessive
- Growth Disorders
- Growth Hormone
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Protein Biosynthesis
- Receptors, Somatotropin
- Russia
- Syndrome