Genetics in Medicine Open (Jan 2023)

P672: Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females

Danny Miller,
Camille Dash,
David Miller,
Miranda Galey,
Jasmine Lin,
Jill A. Madden,
Alan Beggs,
Pankaj Agrawal,
Casie Genetti,
Monica Wojcik

Affiliations

Danny Miller: Seattle Children's Hospital
Camille Dash: Boston Children's Hospital
David Miller: Boston Children's Hospital
Miranda Galey: Seattle Children's Hospital
Jasmine Lin: Boston Children's Hospital
Jill A. Madden: Boston Children's Hospital
Alan Beggs: Boston Children's Hospital
Pankaj Agrawal: Boston Children's Hospital
Casie Genetti: Boston Children's Hospital
Monica Wojcik: Boston Children's Hospital

Journal volume & issue: Vol. 1, no. 1
p. 100737

Abstract

No abstracts available.

Published in Genetics in Medicine Open

ISSN: 2949-7744 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Science: Biology (General): Genetics; Medicine
Website: https://www.sciencedirect.com/journal/genetics-in-medicine-open

About the journal