Children's Hospital (Boston, Massachusetts)
Novel Genetic Variant Expands Clinical Phenotype in Older Patient with Intellectual Disabilities
A groundbreaking case study published by researchers at Boston Children's Hospital sheds new light on the long-term prognosis of individuals with a specific genetic variant. A 71-year-old female patient with a history of intellectual disabilities, schizoaffective disorder, and psychosis was found to have a novel, heterozygous, predicted loss-of-function