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Article

Toward 3D facial analysis for recognizing Mendelian causes of autism spectrum disorder.

Clinical genetics - 1 Nov 2024

Sleyp Yoeri, Matthews Harold S, Vanneste Michiel, Vandenhove Laura, Delanote Valentine, Hoskens Hanne, Indencleef Karlijne, Teule Hanne, Larmuseau Maarten H D, Steyaert Jean, Devriendt Koenraad, Claes Peter, Peeters Hilde

Abstract excerpt

Recognizing Mendelian causes is crucial in molecular diagnostics and counseling for patients with autism spectrum disorder (ASD). We explored facial dysmorphism and facial asymmetry in relation to genetic causes in ASD patients and studied the potential of objective facial phenotyping in discriminating between Mendelian and multifactorial ASD. In a cohort of 152 ASD patients, 3D facial images were used to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39056288
DOI: 10.1111/cge.14595

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