Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia. [electronic resource]
- The Journal of clinical endocrinology and metabolism May 2008
- 1616-24 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0021-972X
10.1210/jc.2007-2678 doi
Adolescent Blotting, Western Body Height Bone Density Carrier Proteins--blood Child, Preschool Genes, Recessive Glycoproteins--blood Growth Disorders--etiology Haplotypes Humans Hyperinsulinism--etiology Insulin-Like Growth Factor Binding Protein 3--blood Insulin-Like Growth Factor I--analysis Male Mutation Puberty