Publications by authors named "Maria Silvia L Figueiredo"
Am J Med Genet A
March 2008
Article Synopsis
- GLH syndrome is a neurocutaneous disorder with an unknown cause, and this report adds two Brazilian cases, including the oldest known patient (29 years old).
- The study examines the clinical and psychiatric features across four patients, noting one potential case of hypomania and ruling out primary growth hormone deficiency in all cases.
- Despite extensive molecular analysis of a specific gene, no pathogenic mutations were found, while the overall patient phenotypic features and potential pathogenesis of GLH syndrome are discussed.
