Publication | Open Access

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

Developmental AnomalyDevelopmental BiologyGenetic DisorderDevelopmental GeneticsGeneticsGenomic MechanismMorphogenesisMolecular GeneticsGermline Gain-of-function MutationsAbnormal DevelopmentMedicineEmbryologyDevelopmental SyndromeSuper Elongation Complex