Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.

doi:10.1038/s41598-024-52691-3

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Article

Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.

Scientific reports - 28 Jan 2024

Hennocq Quentin, Willems Marjolaine, Amiel Jeanne, Arpin Stéphanie, Attie-Bitach Tania, Bongibault Thomas, Bouygues Thomas, Cormier-Daire Valérie, Corre Pierre, Dieterich Klaus, Douillet Maxime, Feydy Jean, Galliani Eva, Giuliano Fabienne, Lyonnet Stanislas, Picard Arnaud, Porntaveetus Thantrira, Rio Marlène, Rouxel Flavien, Shotelersuk Vorasuk, Toutain Annick, Yauy Kevin, Geneviève David, Khonsari Roman H, Garcelon Nicolas

Abstract excerpt

The field of dysmorphology has been changed by the use Artificial Intelligence (AI) and the development of Next Generation Phenotyping (NGP). The aim of this study was to propose a new NGP model for predicting KS (Kabuki Syndrome) on 2D facial photographs and distinguish KS1 (KS type 1, KMT2D-related) from KS2 (KS type 2, KDM6A-related). We included retrospectively and prospectively, from 1998 to 2023, all...

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PMID: 38282012
DOI: 10.1038/s41598-024-52691-3
PMCID: PMC10822856

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