Genetic and clinical advances in Prader-Willi syndrome
- 1 December 1996
- journal article
- review article
- Published by Wolters Kluwer Health in Current Opinion in Pediatrics
- Vol. 8 (6) , 618-624
- https://doi.org/10.1097/00008480-199612000-00013
Abstract
Prader-Willi syndrome is a developmental disorder with distinctive dysmorphic features, specific neurobehavioral attributes, and a characteristic learning profile. Advances continue to be made in understanding the factors associated with the loss of imprinted gene expression within chromosome 15q11-q13. These advances are helping providers make certain diagnoses early and are helping scientists uncover new genetic pathways. In addition, efforts to further understand the role of recombinant growth hormone therapy in Prader-Willi syndrome and the genetic information responsible for the neurobehavioral profile are additional targets for research.Keywords
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