Genetics in Medicine Open (Jan 2023)

P264: Case report: NFIA-related disorder caused by inherited missense mutations leading to variable presentations among family members

Peyton Paschell,
Jacquelyn Johnson,
Christina Laukaitis

Affiliations

Peyton Paschell: Carle Illinois College of Medicine
Jacquelyn Johnson: Carle Foundation Hospital
Christina Laukaitis: Carle Illinois College of Medicine

Journal volume & issue: Vol. 1, no. 1
p. 100292

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