Genetic & Genomic MedicineScience AdvancesPeer-reviewed
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features
Dong Li, Qin Wang, Naihua Natalie Gong…·Hakon H. Hakonarson
The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.
30 citations