Publication | Open Access

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Down SyndromeDeletion SyndromeDevelopmental BiologyGenetic DisorderGeneticsChromosome BiologyNeuroscienceChromosomal RearrangementAbnormal DevelopmentMedicineProximal 1P36EpigeneticsSpen HaploinsufficiencyNeurogenetics