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

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Bibliographic Details
Published in:Genetics in Medicine Open 2023, Vol.1 (1), p.100292, Article 100292
Main Authors: Paschell, Peyton, Johnson, Jacquelyn, Laukaitis, Christina
Format: Article
Language:English
Online Access:Get full text
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ISSN:2949-7744
2949-7744
DOI:10.1016/j.gimo.2023.100292