Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome
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DOI: 10.1136/jmg-2025-110940
Abstract: Purpose 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… read more here.
Keywords: chat syndrome; genotype phenotype; facial morphometry; nosology ... See more keywords