Publication | Open Access

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderDevelopmental GeneticsGeneticsSyndrome Including MicrocephalyGlobal Developmental DelayMolecular GeneticsGene ExpressionMedicineLysine Acetyl-transferase Gene