Article
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
European journal of human genetics : EJHG - 1 Jun 2022
Rouxel Flavien, Yauy Kevin, Boursier Guilaine, Gatinois Vincent, Barat-Houari Mouna, Sanchez Elodie, Lacombe Didier, Arpin Stéphanie, Giuliano Fabienne, Haye Damien, Rio Marlène, Toutain Annick, Dieterich Klaus, Brischoux-Boucher Elise, Julia Sophie, Nizon Mathilde, Afenjar Alexandra, Keren Boris, Jacquette Aurelia, Moutton Sebastien, Jacquemont Marie-Line, Duflos Claire, Capri Yline, Amiel Jeanne, Blanchet Patricia, Lyonnet Stanislas, Sanlaville Damien, Genevieve David
Abstract excerpt
Kabuki syndrome (KS) is a rare genetic disorder caused by mutations in two major genes, KMT2D and KDM6A, that are responsible for Kabuki syndrome 1 (KS1, OMIM147920) and Kabuki syndrome 2 (KS2, OMIM300867), respectively. We lack a description of clinical signs to distinguish KS1 and KS2. We used facial morphology analysis to detect any facial morphological differences between the two KS types. We used a...
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