Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmenti

Through genome sequencing, we identified novel structural variants in the IKBKG gene in two patients affected by incontinentia pigmenti (IP). As a large proportion of patients with IP do not have a molecular diagnosis, new variants remain to be identified. Emerging technologies, such as long-read se...

Full description

Bibliographic Details

Published in:	British journal of dermatology (1951)
Main Authors:	Pipko, Neta, Oh, Rachel Youjin, Kaplan, Aiyana, Shugar, Andrea, Szuto, Anna, Weinstein, Miriam, Yoon, Grace, Mendoza-Londono, Roberto, Pope, Elena, Young, Ted, Marshall, Christian R, Costain, Gregory, Lara-Corrales, Irene, Wang, Yiming
Format:	Journal Article
Language:	English
Published:	23-11-2024
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!