Further supporting SMARCC2‐related neurodevelopmental disorder through exome analysis and reanalysis in two patients - Li, Dong; Downes, Helen; Hou, Cuiping; Hakonarson, Hakon; Zackai, Elaine H.; Schrier Vergano, Samantha A.; Bhoj, Elizabeth J. (American journal of medical genetics. Part A, 2022)
Keywords: Abnormalities, Multiple - genetics; Coffin-Siris syndrome; DNA-Binding Proteins - genetics; Exome - genetics; Genotypes; Humans; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Intellectual Disability - pathology; Mutation; Neurodevelopmental disorders; Neurodevelopmental Disorders - diagnosis; Neurodevelopmental Disorders - genetics; Patients; Phenotype; Phenotypes; reanalysis; Seizures; SMARCC2; Transcription Factors - genetics; Coffin-Siris syndrome; SMARCC2; reanalysis