Genetics in Medicine Open (Jan 2024)

P630: Multi-modal testing, including long-read sequencing, to elucidate an unsolved case of dyskeratosis congenita

Ankita Jhuraney,
Sarah Paolucci,
Sophia Gibson,
Nikhita Damaraju,
Danny Miller,
Jennifer Hayek,
Bri Dingmann,
Jillian Buchan

Affiliations

Ankita Jhuraney: University of Washington Medical Center
Sarah Paolucci: University of Washington Medical Center
Sophia Gibson: University of Washington
Nikhita Damaraju: University of Washington
Danny Miller: University of Washington
Jennifer Hayek: Seattle Children's Hospital
Bri Dingmann: Seattle Children's Hospital
Jillian Buchan: University of Washington Medical Center

Journal volume & issue: Vol. 2
p. 101536

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