Hereditary rickets. How genetic alterations explain the biochemical and clinical phenotypes.

Abstract excerpt

The reemergence of vitamin D deficiency in the industrialized countries resurrects the "threat" of nutritional rickets, especially among pediatric populations, a fact that may lead to underdiagnosis of hereditary rickets. Today, hereditary rickets may be subdivided into two main groups according to their biochemical profile: the one associated with defects in vitamin D synthesis and action and the second...

Topics

• Animals
• Humans
• Mutation
• Phenotype
• Rickets
• Vitamin D