Genetics in Medicine Open (Jan 2024)

P388: Noonan syndrome associated with a homozygous deep intronic variant in LZTR1 gene confirmed by RNA sequencing

Lucie Dupuis,
Anna Szuto,
Christian Marshall,
Lianna Kyriakopoulou,
Roberto Mendoza-Londono,
Vanda McNiven

Affiliations

Lucie Dupuis: Hospital for Sick Children
Anna Szuto: Hospital for Sick Children
Christian Marshall: Hospital for Sick Children
Lianna Kyriakopoulou: Hospital for Sick Children
Roberto Mendoza-Londono: Hospital for Sick Children
Vanda McNiven: Hospital for Sick Children

Journal volume & issue: Vol. 2
p. 101282

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