Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study
Sign Up to like & getrecommendations! Published in 2024 at "Clinical Genetics"
DOI: 10.1111/cge.14649
Abstract: To assess the suitability of genome sequencing (GS) as the second step in the diagnostics of patients with the features of 11p15.5‐associated imprinting disorders (ImpDis: Silver–Russell syndrome [SRS], Beckwith–Wiedemann syndrome [BWS]), we performed short‐read GS… read more here.
Keywords: use genome; sequencing patients; patients 11p15; srs features ... See more keywords