Article
Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high serum GH binding protein: extended phenotypic study in a very large pedigree.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000
Silbergeld A, Dastot F, Klinger B, Kanety H, Eshet R, Amselem S, Laron Z
Abstract excerpt
Laron syndrome (LS) is a hereditary form of GH resistance due to molecular defects in the GH receptor (GHR). Most of the identified mutations are located in the extracellular domain of the receptor, resulting in a lack of serum GHBP in the majority of LS patients. We present an LS patient with su...
Topics
- Adolescent
- Adult
- Aged
- Body Height
- Carrier Proteins
- Child
- Child, Preschool
- Female
- Growth Disorders
- Humans
- Insulin-Like Growth Factor Binding Protein 3
- Insulin-Like Growth Factor I
- Introns
- Male
- Middle Aged