Genetic and clinical advances in Prader-Willi syndrome.
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.
Wharton
R H
RH
Spaulding Rehabilitation Hospital, Boston, MA 02114, USA.
Loechner
K J
KJ
D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D005260:Female; D018392:Genomic Imprinting; D019382:Human Growth Hormone / Q000378:metabolism / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011218:Prader-Willi Syndrome / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology
D019382:Human Growth Hormone