<i>MECP2</i> Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables
<b>Background</b>: <i>MECP2</i> duplication syndrome (MDS) (MIM#300260) is a rare X-linked neurodevelopmental disorder. This study aims to (1) develop a specific clinical severity scale, (2) explore its correlation with clinical and molecular variables, and (3) automate diagn...
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Main Authors: | , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2024-12-01
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Series: | Diagnostics |
Subjects: | |
Online Access: | https://www.mdpi.com/2075-4418/15/1/10 |
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