<i>MECP2</i> Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables

<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: Lourdes Vega-Hanna, Dídac Casas-Alba, Sol Balsells, Mercè Bolasell, Patricia Rubio, Ana García-García, Oscar García-García, Mar O’Callaghan, Ainhoa Pascual-Alonso, Judith Armstrong, MDS Group, Antonio F. Martinez-Monseny
Format: Article
Language:English
Published: MDPI AG 2024-12-01
Series:Diagnostics
Subjects:
<i>MECP2</i>
<i>MECP2</i> duplication syndrome
clinical severity scale
facial recognition
artificial intelligence
Online Access:https://www.mdpi.com/2075-4418/15/1/10
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