Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: A case series.
Eva Albertsen MaltKatalin JuhaszAnna FrengenTeresia WangensteenNina Merete EmilsenBorre HansenOleg AgafonovHilde Loge NilsenPublished in: Molecular genetics & genomic medicine (2019)
3q29 deletion carriers may undergo developmental phenotypic transition and need regular medical follow-up. Identified risk variants in the remaining hemizygous allele should be explored further in autism and schizophrenia research.