P253 Next-generation phenotyping facilitates the identification of structural brain malformations in rare disorders through computational brain MRI analysis

Introduction: Many rare disorders, particularly neurodevelopmental conditions, manifest structural brain malformations. Just as dysmorphologists rely on facial gestalt recognition to identify syndromes, radiologists and neurologists face similar challenges in identifying the ''brain gestal...

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Main Authors: Tzung-Chien Hsieh, Shriya Jaddu, Hannah Weiland, Merle ten Hagen, Jing-Mei Li, Chi-Chia Chang, Sun-Yuan Hsieh, Hsin-Hung Chou, Gholson Lyon, William Dobyns, Wei-Liang Chen
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425014633
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