Article

Advancing Genotype-Phenotype Analysis through 3D Facial Morphometry: Insights from Cri-du-Chat Syndrome

2025-06-01

Abstract excerpt

<h4>Purpose</h4> Facial dysmorphism is a feature of many monogenic disorders, and is important in diagnostics, variant interpretation and nosology. Nevertheless, comprehensively assessing the complex facial shape changes associated with specific syndromes remains challenging. Here, we present 3D morphometric approaches to overcome these limitations, utilizing Cri-du-Chat syndrome (CdCS) as a model. <h4>Methods</h4...

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Literature Corpus work: 441e8bf2-ddd3-5506-9e26-5d6dedfc3028
DOI: 10.1101/2025.06.01.25327945

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