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...

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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
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Summary:	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 sequencing, hold promise for further advancing the molecular diagnosis of IP.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0007-0963 1365-2133 1365-2133
DOI:	10.1093/bjd/ljae462