GeneticsGenetics in MedicinePeer-reviewed
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega…·Tahsin Stefan Barakat
The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.
36 citations