Article
A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype.
Molecular genetics & genomic medicine - 1 Nov 2022
Viitasalo Liisa, Kettunen Kaisa, Kankainen Matti, Niemelä Elina H, Kiiski Kirsi
Abstract excerpt
BACKGROUND: Deletions covering the entire or partial JARID2 gene as well as pathogenic single nucleotide variants leading to haploinsufficiency of JARID2 have recently been shown to cause a clinically distinct neurodevelopmental syndrome. Here, we present a previously undescribed partial de novo duplication of the JARID2 gene in a patient displaying features similar to those of patients with JARID2...
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