A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype

A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype

Abstract 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...

Full description

Bibliographic Details
Main Authors: Liisa Viitasalo, Kaisa Kettunen, Matti Kankainen, Elina H. Niemelä, Kirsi Kiiski
Format: Article
Language:English
Published: Wiley 2022-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
de novo
duplication
JARID2
pathogenic variant
RNA sequencing
whole genome sequencing
Online Access:https://doi.org/10.1002/mgg3.2037

Internet

https://doi.org/10.1002/mgg3.2037

Similar Items