Ontology highlight
ABSTRACT:
SUBMITTER: Dosier LBM
PROVIDER: S-EPMC5615272 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Dosier Laura Beth Mann LBM Vaughn Bradley V BV Fan Zheng Z
Children (Basel, Switzerland) 20170912 9
enetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as "rare disease," but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic disorders including Down syndrome, Angelman syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, co ...[more]