“Clinical and Genetic Characteristics of Intellectual Disability in 54 Indian Families: Diagnosis with Singleton Exome Sequencing”

https://pubmed.ncbi.nlm.nih.gov/38114583

This study describes the clinical and genetic characteristics of 54 families in India with intellectual disability, identifying 46 distinct disorders and highlighting the effectiveness of singleton exome sequencing for diagnosing these disorders in resource-limited settings.