Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: A case series

Conclusion3q29 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.

Source: Molecular Genetics & Genomic Medicine - July 24, 2019 Category: Genetics & Stem Cells Authors: Eva Albertsen Malt, Katalin Juhasz, Anna Frengen, Teresia Wangensteen, Nina Merete Emilsen, Borre Hansen, Oleg Agafonov, Hilde Loge Nilsen Tags: ORIGINAL ARTICLE Source Type: research